ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.688G>C (p.Gly230Arg)

dbSNP: rs1568206043
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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 RCV002233330 SCV000826147 uncertain significance Juvenile polyposis syndrome 2018-02-14 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SMAD4-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 230 of the SMAD4 protein (p.Gly230Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine.
Fulgent Genetics, Fulgent Genetics RCV002507216 SCV002815442 uncertain significance Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas; Juvenile polyposis syndrome 2021-11-08 criteria provided, single submitter clinical testing

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