ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1353G>A (p.Ala451=) (rs1441353791)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000581150 SCV000691400 likely benign Hereditary cancer-predisposing syndrome 2017-04-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586918 SCV000698569 uncertain significance not provided 2017-08-09 criteria provided, single submitter clinical testing Variant summary: The SMAD4 c.1353G>A (p.Ala451Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. MutationTaster predicts a damaging outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites at the locus. However, these predictions have yet to be confirmed by functional studies. This variant is absent from 120562 control chromosomes (ExAC). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586918 SCV000889842 likely benign not provided 2018-01-20 criteria provided, single submitter clinical testing

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