ClinVar Miner

Submissions for variant NM_001258281.1(MSH2):c.-31+91del (rs1553348760)

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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 RCV000562522 SCV000669829 pathogenic Hereditary cancer-predisposing syndrome 2016-12-20 criteria provided, single submitter clinical testing The c.75delC pathogenic mutation, located in coding exon 1 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 75, causing a translational frameshift with a predicted alternate stop codon (p.M26Cfs*38). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590325 SCV000696281 likely pathogenic Lynch syndrome 2017-05-02 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.75delC (p.Met26Cysfs) variant results in a premature termination codon, predicted to cause a truncated or absent MSH2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.387_388delTC, p.Gln130fs). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 56800 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.

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