ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2790dup (p.Ala931fs)

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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 RCV003278520 SCV004007722 pathogenic Hereditary cancer-predisposing syndrome 2023-05-22 criteria provided, single submitter clinical testing The c.2790dupA pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a duplication of A at nucleotide position 2790, causing a translational frameshift with a predicted alternate stop codon (p.A931Sfs*4). 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 RCV003459825 SCV004195823 likely pathogenic Endometrial carcinoma 2023-03-15 criteria provided, single submitter clinical testing

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