ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.13931T>C (p.Leu4644Pro) (rs1568594108)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691654 SCV000819441 uncertain significance RYR1-Related Disorders 2018-03-08 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 4644 of the RYR1 protein (p.Leu4644Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RYR1-related disease. This missense change is located in a region of the RYR1 protein where a significant number of previously reported RYR1 missense mutations are found (PMID: 16084090). These observations suggest that a previously unreported missense substitution within this region may affect protein function, but experiments have not been done to test this possibility. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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