ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.41_42dup (p.Ser15fs)

dbSNP: rs1592660983
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021871 SCV001183540 pathogenic Hereditary cancer-predisposing syndrome 2019-08-12 criteria provided, single submitter clinical testing The c.41_42dupGC pathogenic mutation, located in coding exon 1 of the MEN1 gene, results from a duplication of GC at nucleotide position 41, causing a translational frameshift with a predicted alternate stop codon (p.S15Afs*105). 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.

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