ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys)

gnomAD frequency: 0.00003  dbSNP: rs768127770
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001303182 SCV001492421 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 905 of the COL12A1 protein (p.Arg905Cys). This variant is present in population databases (rs768127770, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1006180). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV001312076 SCV001502516 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001303182 SCV002785754 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-01-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001312076 SCV003832815 uncertain significance not provided 2021-02-10 criteria provided, single submitter clinical testing

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