ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.343dup (p.Leu115fs)

dbSNP: rs2134253352
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936312 SCV002201700 pathogenic not provided 2021-04-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu115Profs*15) in the AIP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AIP are known to be pathogenic (PMID: 23321498, 26186299). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AIP-related conditions. For these reasons, this variant has been classified as Pathogenic.

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