ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile)

dbSNP: rs1568211172
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776864 SCV000912528 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-30 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV001262036 SCV001439413 likely pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2018-01-01 criteria provided, single submitter research PM2+PM1+PP3+PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001856136 SCV002199587 uncertain significance Juvenile polyposis syndrome 2021-11-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 630855). This missense change has been observed in individual(s) with clinical features of hereditary hemorrhagic telangiectasia (PMID: 32573726). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 437 of the SMAD4 protein (p.Val437Ile).
Baylor Genetics RCV001262036 SCV004202587 uncertain significance Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2023-08-09 criteria provided, single submitter clinical testing

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