ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1270G>C (p.Val424Leu)

gnomAD frequency: 0.00001  dbSNP: rs768299607
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583401 SCV000690191 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001235830 SCV001408535 benign Hereditary nonpolyposis colorectal neoplasms 2024-03-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821703 SCV002069141 uncertain significance not specified 2018-04-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV004568295 SCV005054990 uncertain significance Endometrial carcinoma 2023-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583401 SCV005145579 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-25 criteria provided, single submitter clinical testing The p.V424L variant (also known as c.1270G>C), located in coding exon 4 of the MSH6 gene, results from a G to C substitution at nucleotide position 1270. The valine at codon 424 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV005001086 SCV005625623 uncertain significance not provided 2024-06-19 criteria provided, single submitter clinical testing The MSH6 c.1270G>C (p.Val424Leu) variant has not been reported in individuals with MSH6-related conditions in the published literature. The frequency of this variant in the general population, 0.000008 (2/251340 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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