ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2154C>T (p.Ser718=) (rs771662801)

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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 RCV000162785 SCV000213263 likely benign Hereditary cancer-predisposing syndrome 2015-11-27 criteria provided, single submitter clinical testing
Counsyl RCV000412468 SCV000489537 likely benign Hereditary nonpolyposis colorectal cancer type 5 2016-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000428690 SCV000513688 likely benign not specified 2015-12-31 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.
Invitae RCV000586894 SCV000561447 likely benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Color RCV000162785 SCV000685259 likely benign Hereditary cancer-predisposing syndrome 2015-07-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586894 SCV000695801 likely benign not provided 2017-03-03 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.2154C>T (p.Ser718Ser) 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. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 2/121154 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic MSH6 variant (0.0001421). In addition, multiple clinical diagnostic laboratories 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; nor evaluated for functional impact by in vivo/vitro studies. Also, this variant was found together with two DVs in an internal specimen (MUTYH c.1187G>A (p.Gly396Asp) and c.536A>G (p.Tyr179Cys), suggesting that the variant of interest is probably not the cause of the disease. Taken together, this variant is classified as likely benign.
PreventionGenetics,PreventionGenetics RCV000586894 SCV000805857 likely benign not provided 2016-12-06 criteria provided, single submitter clinical testing

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