ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1988A>G (p.His663Arg) (rs764241362)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652908 SCV000774780 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2017-11-16 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 663 of the COL12A1 protein (p.His663Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs764241362, ExAC 0.009%). This variant has not been reported in the literature in individuals with COL12A1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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