ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.965del (p.Gly322fs)

dbSNP: rs2104243932
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002377503 SCV002689124 pathogenic Hereditary cancer-predisposing syndrome 2022-04-15 criteria provided, single submitter clinical testing The c.965delG pathogenic mutation, located in coding exon 6 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 965, causing a translational frameshift with a predicted alternate stop codon (p.G322Afs*9). 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356401 SCV001551560 uncertain significance not provided no assertion criteria provided clinical testing

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