ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1133A>G (p.His378Arg)

gnomAD frequency: 0.00001  dbSNP: rs1210901422
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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 RCV001240810 SCV001413785 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 378 of the COL12A1 protein (p.His378Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. 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.
GeneDx RCV004774345 SCV005383888 uncertain significance not provided 2023-12-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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