Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001380800 | SCV001578978 | pathogenic | not provided | 2021-12-25 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1069054). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. This variant is present in population databases (rs767188723, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Tyr946Ilefs*11) in the MSH3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH3 are known to be pathogenic (PMID: 27476653). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV003458679 | SCV004189152 | pathogenic | Familial adenomatous polyposis 4 | 2023-08-31 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Baylor Genetics | RCV003462969 | SCV004197541 | likely pathogenic | Endometrial carcinoma | 2021-10-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004037644 | SCV005018833 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-12-19 | criteria provided, single submitter | clinical testing | The c.2835delA pathogenic mutation, located in coding exon 21 of the MSH3 gene, results from a deletion of one nucleotide at nucleotide position 2835, causing a translational frameshift with a predicted alternate stop codon (p.Y946Ifs*11). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |