ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs)

dbSNP: rs2106319784
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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 RCV002227842 SCV002506999 likely pathogenic Ullrich congenital muscular dystrophy 1A 2022-05-04 criteria provided, single submitter curation The heterozygous p.Tyr2692MetfsTer15 variant in COL6A3 was identified by our study, in combination with a homozygous variant of uncertain significance, in 1 individual with Ullrich congenital muscular dystrophy 1.(PMID: 32448721). This variant was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 2692 and leads to a premature termination codon 15 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the COL6A3 gene is a moderately established disease mechanism in autosomal recessive Ullrich congenital muscular dystrophy 1. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1_strong, PM2 (Richards 2015).

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