ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.600del (p.Lys201fs)

dbSNP: rs2134254903
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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 RCV001390558 SCV001592300 pathogenic not provided 2022-08-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with AIP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1076609). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Lys201Serfs*14) 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 (gnomAD no frequency).

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