ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.276T>C (p.His92=) (rs762501162)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162560 SCV000212970 likely benign Hereditary cancer-predisposing syndrome 2012-09-27 criteria provided, single submitter clinical testing
Color RCV000162560 SCV000906009 likely benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590687 SCV000698574 likely benign not provided 2016-03-07 criteria provided, single submitter clinical testing Variant summary: The c.276T>C variant affects a non-conserved nucleotide, resulting in no amino acid change. One in-silico tool predicts damaging outcome for this variant. 5/5 programs in Alamut predict that this variant does not affect normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions are not confirmed by experimental studies. This variant is found in 2/121386 control chromosomes at a frequency of 0.0000165, which is about 8 times of maximal expected frequency of a pathogenic allele (0.000002), suggesting this variant is benign. In addition, one clinical laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as likely benign.
Invitae RCV000540627 SCV000632781 likely benign Juvenile polyposis syndrome 2018-01-06 criteria provided, single submitter clinical testing

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