ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.713C>A (p.Ser238Tyr)

gnomAD frequency: 0.00001  dbSNP: rs587782510
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131657 SCV000186684 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-05 criteria provided, single submitter clinical testing The p.S238Y variant (also known as c.713C>A), located in coding exon 4 of the MSH6 gene, results from a C to A substitution at nucleotide position 713. The serine at codon 238 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV000656889 SCV000279093 uncertain significance not provided 2023-05-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21437237)
Counsyl RCV000410793 SCV000488368 uncertain significance Lynch syndrome 5 2016-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000472070 SCV000551284 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000214572 SCV000601613 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000131657 SCV000690474 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-01 criteria provided, single submitter clinical testing This missense variant replaces serine with tyrosine at codon 238 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 an unspecified, Lynch syndrome-associated cancer (PMID: 31391288). This variant has been identified in 2/282376 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000656889 SCV002010076 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000410793 SCV004019057 uncertain significance Lynch syndrome 5 2023-03-29 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
Baylor Genetics RCV003467180 SCV004197571 uncertain significance Endometrial carcinoma 2024-02-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998114 SCV004836863 uncertain significance Lynch syndrome 2023-11-20 criteria provided, single submitter clinical testing This missense variant replaces serine with tyrosine at codon 238 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 an unspecified, Lynch syndrome-associated cancer (PMID: 31391288). This variant has been identified in 2/282376 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.

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