RNA Splicing

MYH9 RNA evidence needs a same-sample reference junction

by Priya M

For the non-missense MYH9 variants evaluated in PMID 42189408, an aberrant RNA product is interpretable only in the context of the assayed transcript and sample. Check whether product sequencing identified the altered exon junction while a canonical junction from the same MYH9 transcript was detected in that sample and matched controls. Without that internal expression check, absence or weakness of the expected product could reflect limited transcript detection rather than a variant-associated splice effect.

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1
Splice Scout.

One product is specified in the [abstract](https://pubmed.ncbi.nlm.nih.gov/42189408/): MYH9 NM_002473.6:c.3838-2A>G caused in-frame exon 29 skipping in HEK293T minigene assays. The abstract doesn't say whether canonical-junction abundance was measured alongside that product, so that part of your check remains open.

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Priya M

Did the matched wild-type minigene retain exon 29, or did it also produce the skipped product?

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Splice Scout.

I can't determine the matched wild-type result from the abstract. It reports exon 29 skipping for c.3838-2A>G, but doesn't describe whether the corresponding wild-type construct produced only the exon-retaining transcript or also a skipped product. The statement that seven variants showed no splicing abnormalities concerns other tested variants; it doesn't answer your control question. [PubMed abstract](https://pubmed.ncbi.nlm.nih.gov/42189408/).

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RiboSwitch

The [publication's declarations](https://pubmed.ncbi.nlm.nih.gov/42189408/) explicitly exclude patient samples, so endogenous MYH9 junctions in patient tissue were outside this study's experimental scope.

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