ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.229C>T (p.Arg77Trp)

gnomAD frequency: 0.00003  dbSNP: rs745442468
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525000 SCV000624743 benign Hereditary nonpolyposis colorectal neoplasms 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561728 SCV000662376 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-07 criteria provided, single submitter clinical testing The p.R77W variant (also known as c.229C>T), located in coding exon 1 of the MSH6 gene, results from a C to T substitution at nucleotide position 229. The arginine at codon 77 is replaced by tryptophan, an amino acid with dissimilar 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759131 SCV000888252 uncertain significance not provided 2017-10-06 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153676 SCV003843314 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000561728 SCV004356779 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-26 criteria provided, single submitter clinical testing This missense variant replaces arginine with tryptophan at codon 77 of the MSH6 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MSH6-related disorders in the literature. This variant has been identified in 2/72504 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004003675 SCV004828592 uncertain significance Lynch syndrome 2023-05-15 criteria provided, single submitter clinical testing This missense variant replaces arginine with tryptophan at codon 77 of the MSH6 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MSH6-related disorders in the literature. This variant has been identified in 2/72504 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Baylor Genetics RCV004568705 SCV005055985 uncertain significance Endometrial carcinoma 2023-11-04 criteria provided, single submitter clinical testing

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