ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.4917C>G (p.Asp1639Glu) (rs1553556773)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537915 SCV000657332 uncertain significance Bethlem myopathy 1 2018-09-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 1639 of the COL6A3 protein (p.Asp1639Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a COL6A3-related disease. This variant occurs outside of the conserved triple-helical domain of the type 6 alpha-3 collagen protein where amino acid substitutions are rarely pathogenic. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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