ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.13224_13235dup (p.Ser4409_Ala4412dup)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800305 SCV000940011 uncertain significance RYR1-Related Disorders 2018-08-21 criteria provided, single submitter clinical testing This variant, c.13224_13235dupCAGCGAGGGCGC, results in the insertion of 4 amino acid(s) to the RYR1 protein (p.Ser4409_Ala4412dup), but otherwise preserves the integrity of the reading frame. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with RYR1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid(s) is currently unknown. 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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