ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1248del (p.Lys417fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290171 SCV002579282 likely pathogenic Lynch syndrome 5 2021-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003164435 SCV003867508 pathogenic Hereditary cancer-predisposing syndrome 2023-03-09 criteria provided, single submitter clinical testing The c.1248delT pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 1248, causing a translational frameshift with a predicted alternate stop codon (p.K417Sfs*36). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.his variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD).
Baylor Genetics RCV003464437 SCV004195698 likely pathogenic Endometrial carcinoma 2023-06-29 criteria provided, single submitter clinical testing

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