ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.338_341dup (p.Leu115fs)

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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 RCV004516373 SCV005021387 pathogenic Hereditary cancer-predisposing syndrome 2024-02-28 criteria provided, single submitter clinical testing The c.338_341dupACCC pathogenic mutation, located in coding exon 3 of the AIP gene, results from a duplication of ACCC at nucleotide position 338, causing a translational frameshift with a predicted alternate stop codon (p.L115Pfs*16). This alteration has been reported in patients with pituitary adenomas (Stratakis CA et al. Clin Genet, 2010 Nov;78:457-63; Caimari F et al. J Med Genet, 2018 Apr;55:254-260). In addition to the clinical data presented in the literature, 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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