ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.6G>C (p.Ala2=) (rs368270856)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566649 SCV000662217 likely benign Hereditary cancer-predisposing syndrome 2015-01-18 criteria provided, single submitter clinical testing
Color RCV000566649 SCV000685119 likely benign Hereditary cancer-predisposing syndrome 2016-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000435277 SCV000517876 likely benign not specified 2017-08-17 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 RCV000586943 SCV000696279 uncertain significance not provided 2017-08-09 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.6G>C (p.Ala2Ala) variant involves the alteration of a 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. ESE finder predicts that this variant does not affect any ESE site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2/38996 control chromosomes at a frequency of 0.0000513, which does not exceed the estimated maximal expected allele frequency of a pathogenic MSH2 variant (0.0005683). In addition, multiple clinical diagnostic laboratories/reputable databases 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 diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000474559 SCV000559195 likely benign Hereditary nonpolyposis colon cancer 2017-05-03 criteria provided, single submitter clinical testing

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