ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.10820C>G (p.Ser3607Ter)

dbSNP: rs1006839535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003320744 SCV004025675 pathogenic not provided 2023-02-08 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 significant frequency in large population cohorts (gnomAD); Identified in patients with clinical features consistent with an FRAS1-related disorder referred for genetic testing at GeneDx and in published literature (Boussion et al., 2020); This variant is associated with the following publications: (PMID: 31923588)
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000782142 SCV000920595 pathogenic Fraser syndrome 1 no assertion criteria provided clinical testing

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