ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1523del (p.Gly508fs)

dbSNP: rs2144478656
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001872983 SCV002146505 pathogenic Juvenile polyposis syndrome 2021-09-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SMAD4 protein in which other variant(s) (p.Ala532Profs*5) have been determined to be pathogenic (PMID: 15031030). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with SMAD4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly508Alafs*29) in the SMAD4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acid(s) of the SMAD4 protein.
Baylor Genetics RCV003464193 SCV004204862 likely pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2021-12-11 criteria provided, single submitter clinical testing

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