ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.896C>T (p.Ala299Val)

dbSNP: rs1580551915
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812254 SCV000952562 uncertain significance not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 299 of the MSH3 protein (p.Ala299Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 655965). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sema4, Sema4 RCV002256536 SCV002536553 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-26 criteria provided, single submitter curation
Ambry Genetics RCV002256536 SCV002683678 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-26 criteria provided, single submitter clinical testing The p.A299V variant (also known as c.896C>T), located in coding exon 5 of the MSH3 gene, results from a C to T substitution at nucleotide position 896. The alanine at codon 299 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003461206 SCV004199397 uncertain significance Endometrial carcinoma 2023-08-23 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.