ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5885T>C (p.Leu1962Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002932961 SCV003264153 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-04-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This variant is present in population databases (rs764981809, gnomAD 0.0009%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1962 of the COL12A1 protein (p.Leu1962Pro). 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: "Benign"; Align-GVGD: "Class C0"). 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.

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