ClinVar Miner

Submissions for variant NM_198060.4(NRAP):c.4504C>T (p.Arg1502Ter)

gnomAD frequency: 0.00024  dbSNP: rs201084642
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776486 SCV002013095 uncertain significance not provided 2020-12-08 criteria provided, single submitter clinical testing Identified in the homozygous state in a patient with dilated cardiomyopathy, and also homozygous in this individual's unaffected sibling (Tuszkowska et al., 2017); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); This variant is associated with the following publications: (PMID: 28611399, 33534821)

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