ClinVar Miner

Submissions for variant NM_001038603.3(MARVELD2):c.296G>A (p.Trp99Ter)

gnomAD frequency: 0.00001  dbSNP: rs993107184
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760945 SCV000890841 likely pathogenic not provided 2020-08-24 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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