ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8354C>T (p.Pro2785Leu)

dbSNP: rs1160043441
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002038564 SCV002308451 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-07-05 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.001%). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1520193). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2785 of the COL12A1 protein (p.Pro2785Leu).
GeneDx RCV002509748 SCV002819045 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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