ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.4951C>T (p.Arg1651Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003830450 SCV004633181 pathogenic not provided 2024-01-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1651*) in the FRAS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FRAS1 are known to be pathogenic (PMID: 12766769, 18671281). This variant is present in population databases (rs753960106, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with FRAS1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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