ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7868T>C (p.Leu2623Pro)

dbSNP: rs1553269568
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617683 SCV000737930 uncertain significance Cardiovascular phenotype 2017-03-11 criteria provided, single submitter clinical testing The p.L2623P variant (also known as c.7868T>C), located in coding exon 52 of the RYR2 gene, results from a T to C substitution at nucleotide position 7868. The leucine at codon 2623 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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