ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.299T>C (p.Val100Ala)

dbSNP: rs2103981191
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002020241 SCV002290829 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2021-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002441197 SCV002747916 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-15 criteria provided, single submitter clinical testing The p.V100A variant (also known as c.299T>C), located in coding exon 2 of the MSH2 gene, results from a T to C substitution at nucleotide position 299. The valine at codon 100 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV002441197 SCV004356587 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-29 criteria provided, single submitter clinical testing This missense variant replaces valine with alanine at codon 100 of the MSH2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified 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 RCV004011120 SCV004824329 uncertain significance Lynch syndrome 2023-05-31 criteria provided, single submitter clinical testing This missense variant replaces valine with alanine at codon 100 of the MSH2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified 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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