ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.550C>T (p.Gln184Ter)

dbSNP: rs267606560
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003556104 SCV004294887 pathogenic not provided 2023-04-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 41188). This premature translational stop signal has been observed in individual(s) with pituitary adenomas (PMID: 21753072). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln184*) 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).
GeneReviews RCV000034087 SCV000058017 not provided Somatotroph adenoma no assertion provided literature only

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