ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.356_371del (p.Arg119fs)

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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 RCV004516374 SCV005021250 pathogenic Hereditary cancer-predisposing syndrome 2023-11-28 criteria provided, single submitter clinical testing The c.356_371del16 pathogenic mutation, located in coding exon 3 of the AIP gene, results from a deletion of 16 nucleotides at nucleotide positions 356 to 371, causing a translational frameshift with a predicted alternate stop codon (p.R119Lfs*32). 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.

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