ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14557_14559del (p.Phe4853del) (rs1085307458)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489497 SCV000576492 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the RYR2 gene. The c.14557_14559delTTT variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This in-frame deletion results in a deletion of one phenylalanine residue at position 4853 of the RYR2 gene that is conserved across species. However, as this is an in-frame deletion, it is not expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay.

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