ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.637A>C (p.Thr213Pro)

gnomAD frequency: 0.00001  dbSNP: rs876659071
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215713 SCV000275081 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-06 criteria provided, single submitter clinical testing The p.T213P variant (also known as c.637A>C), located in coding exon 4 of the MSH6 gene, results from an A to C substitution at nucleotide position 637. The threonine at codon 213 is replaced by proline, an amino acid with highly similar 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.
Invitae RCV000555550 SCV000624989 benign Hereditary nonpolyposis colorectal neoplasms 2024-01-18 criteria provided, single submitter clinical testing
Counsyl RCV000663154 SCV000786309 uncertain significance Lynch syndrome 5 2018-04-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000215713 SCV001342762 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces threonine with proline at codon 213 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 1/31408 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.
GeneDx RCV002280111 SCV002568642 uncertain significance not provided 2022-02-24 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
Myriad Genetics, Inc. RCV000663154 SCV004018439 uncertain significance Lynch syndrome 5 2023-03-27 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 RCV003462459 SCV004197621 uncertain significance Endometrial carcinoma 2023-10-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997891 SCV004841160 uncertain significance Lynch syndrome 2023-12-18 criteria provided, single submitter clinical testing This missense variant replaces threonine with proline at codon 213 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 1/31408 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526646 SCV005039035 uncertain significance not specified 2024-03-31 criteria provided, single submitter clinical testing

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