ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.1319G>A (p.Cys440Tyr)

dbSNP: rs2125077498
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV002227844 SCV002507002 uncertain significance Congenital myasthenic syndrome 5 2022-05-04 criteria provided, single submitter curation The homozygous p.Cys440Tyr variant in COLQ was identified by our study in 1 individual with congenital myasthenic syndrome 5. The variant has not been previously reported in individuals with congenital myasthenic syndrome 5 and was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PM3_supporting, PP3 (Richards 2015).

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