ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1499G>A (p.Trp500Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001255431 SCV001424908 pathogenic not provided 2020-06-11 criteria provided, single submitter clinical testing Observed in homozygous state due to UPD in a patient with skeletal anomalies referred for genetic testing at GeneDx (Retterer et al., 2016) and not observed in homozygous state in controls. 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 in large population cohorts (Lek et al., 2016). We interpret W500X as a pathogenic variant.

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