ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp)

dbSNP: rs863224861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000197493 SCV000255351 likely pathogenic Bethlem myopathy 1A 2012-03-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593438 SCV000709570 uncertain significance not provided 2017-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000197493 SCV001581198 pathogenic Bethlem myopathy 1A 2021-04-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of autosomal dominant Bethlem myopathy (PMID: 25326637, 24134684). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 216911). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 699 of the COL6A2 protein (p.Gly699Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

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