ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val) (rs759722280)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000536211 SCV000897312 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000536211 SCV000656150 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2017-01-11 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 1323 of the COL12A1 protein (p.Leu1323Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs759722280, ExAC 0.001%) but has not been reported in the literature in individuals with a 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, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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