ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.229T>C (p.Phe77Leu) (rs199736749)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000380636 SCV000343447 uncertain significance not provided 2018-06-04 criteria provided, single submitter clinical testing
Invitae RCV000532885 SCV000657140 uncertain significance Bethlem myopathy 1 2017-02-06 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 77 of the COL6A2 protein (p.Phe77Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a COL6A2-related disease. ClinVar contains an entry for this variant (Variation ID: 289146). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect 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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