ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.227CGC[3] (p.Pro77_His78insPro)

dbSNP: rs1490449810
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 RCV000812566 SCV000952884 uncertain significance not provided 2023-12-30 criteria provided, single submitter clinical testing This variant, c.230_232dup, results in the insertion of 1 amino acid(s) of the MSH3 protein (p.Pro77dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 656208). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV001015119 SCV001175915 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-05 criteria provided, single submitter clinical testing The c.230_232dupCGC variant (also known as p.P77dup), located in coding exon 1 of the MSH3 gene, results from an in-frame duplication of CGC at nucleotide positions 230 to 232. This results in the duplication of an extra residue between codons 77 and 78. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Sema4, Sema4 RCV001015119 SCV002536047 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-26 criteria provided, single submitter curation
Baylor Genetics RCV003467461 SCV004196991 uncertain significance Endometrial carcinoma 2024-03-22 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.