ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13276_13278GAA[2] (p.Glu4428del) (rs869025516)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208370 SCV000264196 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-02-24 criteria provided, single submitter clinical testing
GeneDx RCV000414609 SCV000491843 uncertain significance not provided 2016-11-17 criteria provided, single submitter clinical testing The normal sequence with the bases that are deleted in brackets is: AGAA[delGAA]AAGG. A variant of uncertain significance has been identified in the RYR2 gene. The c.13282_13284delGAA 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 5,900 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 c.13282_13284delGAA variant results in the deletion of a conserved Glutamic acid residue at codon 4428 in the RYR2 gene. 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. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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