ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1720T>A (p.Ser574Thr)

gnomAD frequency: 0.00001  dbSNP: rs769914244
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491483 SCV000580240 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-05 criteria provided, single submitter clinical testing The p.S574T variant (also known as c.1720T>A), located in coding exon 4 of the MSH6 gene, results from a T to A substitution at nucleotide position 1720. The serine at codon 574 is replaced by threonine, an amino acid with 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000491483 SCV000685220 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces serine with threonine at codon 574 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 2/250238 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001065970 SCV001230963 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-25 criteria provided, single submitter clinical testing
GeneDx RCV002527060 SCV003194863 uncertain significance not provided 2023-01-11 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: 17531815, 21120944)
Baylor Genetics RCV003464051 SCV004195573 uncertain significance Endometrial carcinoma 2023-08-21 criteria provided, single submitter clinical testing

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