ClinVar Miner

Submissions for variant NM_001036.5(RYR3):c.4307A>C (p.Gln1436Pro) (rs765877934)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519323 SCV000621901 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing The Q1436P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q1436P variant is observed in 4/30,124 (0.01%) alleles from individuals of South Asian background (Lek et al., 2016). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function.

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