ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2701C>A (p.Arg901Ser)

gnomAD frequency: 0.00002  dbSNP: rs772514245
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV000210111 SCV000266207 uncertain significance Lynch syndrome 2015-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000217860 SCV000276264 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-17 criteria provided, single submitter clinical testing The p.R901S variant (also known as c.2701C>A), located in coding exon 4 of the MSH6 gene, results from a C to A substitution at nucleotide position 2701. The arginine at codon 901 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000693978 SCV000822402 benign Hereditary nonpolyposis colorectal neoplasms 2023-08-30 criteria provided, single submitter clinical testing
GeneDx RCV002469072 SCV002765570 uncertain significance not provided 2022-12-19 criteria provided, single submitter clinical testing Observed in an individual with colorectal cancer (Shirts et al., 2016); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 17531815, 21120944, 26845104)
All of Us Research Program, National Institutes of Health RCV000210111 SCV004841939 uncertain significance Lynch syndrome 2023-12-13 criteria provided, single submitter clinical testing This missense variant replaces arginine with serine at codon 901 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 been reported in an individual affected with early onset colorectal cancer (PMID: 26845104). This variant has been identified in 3/282050 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 RCV004567494 SCV005054819 uncertain significance Endometrial carcinoma 2024-03-26 criteria provided, single submitter clinical testing

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