ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1673del (p.Ser558fs)

dbSNP: rs1573560283
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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 RCV001012670 SCV001173153 pathogenic Hereditary cancer-predisposing syndrome 2019-03-01 criteria provided, single submitter clinical testing The c.1673delC pathogenic mutation, located in coding exon 11 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 1673, causing a translational frameshift with a predicted alternate stop codon (p.S558Ffs*2). This variant was reported in one French Lynch syndrome family (Bonadona V et al. JAMA, 2011 Jun;305:2304-10). 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.
Color Diagnostics, LLC DBA Color Health RCV001012670 SCV001734513 pathogenic Hereditary cancer-predisposing syndrome 2020-10-05 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 11 of the MSH2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in a family affected with Lynch syndrome (PMID: 21642682). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MSH2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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