ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1422A>C (p.Ser474=) (rs786201261)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163190 SCV000213711 likely benign Hereditary cancer-predisposing syndrome 2014-11-20 criteria provided, single submitter clinical testing
Color RCV000163190 SCV000686520 likely benign Hereditary cancer-predisposing syndrome 2017-03-07 criteria provided, single submitter clinical testing
Counsyl RCV000412158 SCV000487874 likely benign Juvenile polyposis syndrome 2015-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000679585 SCV000968888 likely benign not provided 2018-05-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000781851 SCV000920223 uncertain significance not specified 2017-09-07 criteria provided, single submitter clinical testing Variant summary: The c.1422A>C (p.Ser474=) in SMAD4 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 splicing prediction programs predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is absent from ExAC (0/120710 chrs tested) but is present in control dataset of gnomAD at a low frequency of 0.0000040 (1/245838 chrs tested). The presence in the general population should be taken with caution, since the possibility of the variant being derived from pseudogene cannot be completely ruled out. The variant of interest has not, to our knowledge, been reported in affected individuals via published reports, but is sited as Likely Benign by multiple reputable databases/clinical laboratories. Taking together, the variant was classified as VUS-Possible Benign.
Invitae RCV000412158 SCV000556147 likely benign Juvenile polyposis syndrome 2017-10-06 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679585 SCV000806693 likely benign not provided 2017-11-13 criteria provided, single submitter clinical testing

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