ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1537A>G (p.Ile513Val)

gnomAD frequency: 0.00001  dbSNP: rs746897461
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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 RCV000221108 SCV000278057 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-21 criteria provided, single submitter clinical testing The p.I513V variant (also known as c.1537A>G), located in coding exon 4 of the MSH6 gene, results from an A to G substitution at nucleotide position 1537. The isoleucine at codon 513 is replaced by valine, 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 RCV000550953 SCV000624663 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-06-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000221108 SCV001346917 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-22 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 513 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 2/251276 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 RCV003469083 SCV004197643 uncertain significance Endometrial carcinoma 2023-10-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998570 SCV004839429 uncertain significance Lynch syndrome 2023-08-28 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 513 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 2/251276 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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