ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu)

dbSNP: rs375043994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796094 SCV000935591 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-08-31 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 1258 of the COL12A1 protein (p.Asp1258Glu). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 642600).
Fulgent Genetics, Fulgent Genetics RCV000796094 SCV002785893 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-09-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144600 SCV003833285 uncertain significance not provided 2021-09-20 criteria provided, single submitter clinical testing

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