ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3804A>G (p.Ala1268=) (rs1572746044)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862856 SCV001003419 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021193 SCV001182775 likely benign Hereditary cancer-predisposing syndrome 2019-08-16 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color Health, Inc RCV001021193 SCV001350942 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193727 SCV001362785 uncertain significance not specified 2019-07-10 criteria provided, single submitter clinical testing Variant summary: MSH6 c.3804A>G (p.Ala1268Ala) alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251046 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3804A>G in individuals affected with Lynch Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as a VUS - possibly benign variant.

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