ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1639del (p.Glu547fs)

dbSNP: rs1572723786
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012525 SCV001172989 pathogenic Hereditary cancer-predisposing syndrome 2019-02-07 criteria provided, single submitter clinical testing The c.1639delG variant, located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 1639, causing a translational frameshift with a predicted alternate stop codon (p.E547Kfs*24). 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.
Centogene AG - the Rare Disease Company RCV001809902 SCV002059483 likely pathogenic Endometrial carcinoma 2021-02-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478614 SCV004221149 pathogenic not provided 2023-02-10 criteria provided, single submitter clinical testing This frameshift variant alters the translational reading frame of the MSH6 mRNA and causes the premature termination of MSH6 protein synthesis. The variant has not been reported in individuals with MSH6-related diseases in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.

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