ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1608A>G (p.Leu536=) (rs753128184)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000773045 SCV000906431 likely benign Hereditary cancer-predisposing syndrome 2016-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000611504 SCV000717381 likely benign not specified 2017-03-20 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 RCV000590229 SCV000698571 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing Variant summary: The SMAD4 c.1608A>G (p.Leu536Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 3/5 splice prediction tools predict no significant impact on splicing sites. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 4/121348 control chromosomes. However, due to SNPs in the chromosomal region of interest may be pseudogene derived and thus this frequency needs to be used with caution. 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.
Invitae RCV000560320 SCV000632771 likely benign Juvenile polyposis syndrome 2018-01-02 criteria provided, single submitter clinical testing

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