ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1703A>T (p.Lys568Ile)

dbSNP: rs1353476726
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 RCV000792035 SCV000931307 uncertain significance not provided 2024-04-27 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 568 of the MSH3 protein (p.Lys568Ile). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 639281). 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.
Ambry Genetics RCV002397564 SCV002714173 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-06 criteria provided, single submitter clinical testing The p.K568I variant (also known as c.1703A>T), located in coding exon 12 of the MSH3 gene, results from an A to T substitution at nucleotide position 1703. The lysine at codon 568 is replaced by isoleucine, an amino acid with dissimilar 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 RCV004569498 SCV005054793 uncertain significance Endometrial carcinoma 2023-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036126 SCV005666191 uncertain significance Endometrial carcinoma; Familial adenomatous polyposis 4 2024-04-30 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.