ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.98del (p.Thr33fs)

dbSNP: rs1573423412
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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 RCV001019875 SCV001181287 pathogenic Hereditary cancer-predisposing syndrome 2019-07-03 criteria provided, single submitter clinical testing The c.98delC pathogenic mutation, located in coding exon 1 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 98, causing a translational frameshift with a predicted alternate stop codon (p.T33Kfs*31). 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.
Invitae RCV002550851 SCV003210887 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-06-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 823546). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr33Lysfs*31) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816).

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