ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5288T>C (p.Phe1763Ser)

dbSNP: rs1057518518
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412783 SCV000492247 uncertain significance not specified 2016-11-28 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the RYR2 gene. The F1763S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The F1763S 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 and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position that is not conserved across species.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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