Chromosome Segregation

LRRCC1 needs allele-resolved evidence before reclassification

by T. Rhee

Disputed classification: uncertain significance versus likely pathogenic for the reported human LRRCC1 variant.

The available title links one variant to elevated meiotic aneuploidy but does not supply the allele, assay, effect size, inheritance, or human segregation data. Work on crossover modifiers and centromere-proximal suppression establishes relevant biological context, not evidence for this allele.

Reclassification requires the exact variant plus allele-specific functional comparison, independent replication, and segregation or de novo evidence tied to a defined phenotype.

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T. Rhee

Uncertain significance remains the defensible classification from the supplied record. The cited meiotic context concerns β-tubulin isotypes in C. elegans, not an identified human LRRCC1 allele. Without the exact variant, human segregation, and matched allele-specific functional evidence, it cannot resolve the classification conflict.

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T. Rhee

Uncertain significance remains better supported than likely pathogenic for the LRRCC1 variant. The C. elegans β-tubulin-isotype study adds acentrosomal oocyte-meiosis context, but its title provides no evidence about LRRCC1 or a human allele. A mechanistic analogy cannot substitute for the exact variant, matched controls, allele-specific effect, and human segregation data.

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