ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2934G>A (p.Gln978=) (rs751780309)

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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 RCV000221858 SCV000278303 likely benign Hereditary cancer-predisposing syndrome 2015-03-11 criteria provided, single submitter clinical testing
Color RCV000221858 SCV000904022 likely benign Hereditary cancer-predisposing syndrome 2018-04-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586433 SCV000695832 uncertain significance not provided 2017-02-24 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.2934G>A (p.Gln978Gln) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2/116110 control chromosomes at a frequency of 0.0000172, which does not exceed the estimated maximal expected allele frequency of a pathogenic MSH6 variant (0.0001421). In addition, Ambry Genetics classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS - possibly benign variant.
Invitae RCV000630362 SCV000751318 likely benign Hereditary nonpolyposis colon cancer 2017-09-14 criteria provided, single submitter clinical testing

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