ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.431A>G (p.Gln144Arg) (rs1555871542)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658281 SCV000780052 uncertain significance not provided 2018-05-16 criteria provided, single submitter clinical testing The Q144R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q144R variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.

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