ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7009G>A (p.Asp2337Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804321 SCV000944225 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-07-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 2337 of the COL12A1 protein (p.Asp2337Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs772161963, ExAC 0.002%). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; 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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