ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.3730C>T (p.Arg1244Ter)

gnomAD frequency: 0.00002  dbSNP: rs186964660
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand RCV001172412 SCV001335471 pathogenic Fraser syndrome 1 2018-09-14 criteria provided, single submitter clinical testing This variant in homozygous state or compound heterozygous state induced Fraser syndrome phenotype
Revvity Omics, Revvity Omics RCV001172412 SCV002023755 pathogenic Fraser syndrome 1 2022-04-29 criteria provided, single submitter clinical testing
Invitae RCV003558742 SCV004293187 pathogenic not provided 2023-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1244*) 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 (rs186964660, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with Fraser syndrome (PMID: 18671281). ClinVar contains an entry for this variant (Variation ID: 916643). For these reasons, this variant has been classified as Pathogenic.

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