ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.958A>G (p.Thr320Ala)

gnomAD frequency: 0.00004  dbSNP: rs368982417
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000771481 SCV000903944 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-28 criteria provided, single submitter clinical testing This missense variant replaces threonine with alanine at codon 320 of the MSH2 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 hereditary cancer in the literature. This variant has been identified in 6/251412 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.
Ambry Genetics RCV000771481 SCV001180880 likely benign Hereditary cancer-predisposing syndrome 2022-03-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001044734 SCV001208548 benign Hereditary nonpolyposis colorectal neoplasms 2023-08-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492163 SCV004239296 uncertain significance Breast and/or ovarian cancer 2022-10-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999955 SCV004824443 uncertain significance Lynch syndrome 2023-03-28 criteria provided, single submitter clinical testing This missense variant replaces threonine with alanine at codon 320 of the MSH2 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 hereditary cancer in the literature. This variant has been identified in 6/251412 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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