ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.35C>T (p.Pro12Leu)

dbSNP: rs760603184
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780472 SCV000917745 uncertain significance not specified 2021-04-08 criteria provided, single submitter clinical testing Variant summary: MSH6 c.35C>T (p.Pro12Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.1e-06 in 245172 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.35C>T in individuals affected with Hereditary Nonpolyposis Colorectal Cancer 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 uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001856186 SCV002264174 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458395 SCV002617539 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-24 criteria provided, single submitter clinical testing The p.P12L variant (also known as c.35C>T), located in coding exon 1 of the MSH6 gene, results from a C to T substitution at nucleotide position 35. The proline at codon 12 is replaced by leucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004569487 SCV005054929 uncertain significance Endometrial carcinoma 2024-02-09 criteria provided, single submitter clinical testing

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