ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.2212A>T (p.Lys738Ter)

gnomAD frequency: 0.00001  dbSNP: rs1580035037
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987530 SCV001136844 likely pathogenic Familial adenomatous polyposis 4 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014807 SCV001175565 pathogenic Hereditary cancer-predisposing syndrome 2024-06-28 criteria provided, single submitter clinical testing The p.K738* pathogenic mutation (also known as c.2212A>T), located in coding exon 15 of the MSH3 gene, results from an A to T substitution at nucleotide position 2212. This changes the amino acid from a lysine to a stop codon within coding exon 15. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001048457 SCV001212464 pathogenic not provided 2024-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys738*) 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, 37402566). 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: 802123). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV000987530 SCV004189113 pathogenic Familial adenomatous polyposis 4 2023-08-30 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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