ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.185_186del (p.Arg62fs)

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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 RCV002412992 SCV002712095 pathogenic Hereditary cancer-predisposing syndrome 2022-06-01 criteria provided, single submitter clinical testing The c.185_186delGC pathogenic mutation, located in coding exon 1 of the MSH6 gene, results from a deletion of two nucleotides at nucleotide positions 185 to 186, causing a translational frameshift with a predicted alternate stop codon (p.R62Lfs*27). 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.
Baylor Genetics RCV003465743 SCV004196385 likely pathogenic Endometrial carcinoma 2020-10-07 criteria provided, single submitter clinical testing

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