ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.643A>T (p.Lys215Ter)

dbSNP: rs1591046113
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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 RCV001025263 SCV001187418 pathogenic Hereditary cancer-predisposing syndrome 2019-02-22 criteria provided, single submitter clinical testing The p.K215* pathogenic mutation (also known as c.643A>T), located in coding exon 4 of the AIP gene, results from an A to T substitution at nucleotide position 643. This changes the amino acid from a lysine to a stop codon within coding exon 4. 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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