ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.2342del (p.Pro781fs)

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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 RCV003694877 SCV004437361 pathogenic not provided 2023-02-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro781Leufs*189) 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 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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