ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3257C>G (p.Pro1086Arg)

dbSNP: rs780345806
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223078 SCV000274585 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-15 criteria provided, single submitter clinical testing The p.P1086R variant (also known as c.3257C>G), located in coding exon 5 of the MSH6 gene, results from a C to G substitution at nucleotide position 3257. The proline at codon 1086 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is poorly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000699366 SCV000828072 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-01-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000223078 SCV001353071 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-05 criteria provided, single submitter clinical testing This missense variant replaces proline with arginine at codon 1086 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 1/251436 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 RCV003997868 SCV004835028 uncertain significance Lynch syndrome 2023-05-31 criteria provided, single submitter clinical testing This missense variant replaces proline with arginine at codon 1086 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 1/251436 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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