ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.70G>T (p.Glu24Ter)

dbSNP: rs267606568
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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 RCV001390426 SCV001592158 pathogenic not provided 2020-03-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in AIP are known to be pathogenic (PMID: 23321498, 26186299). This variant has been observed in individual(s) with pituitary adenoma (PMID: 18381572). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 41196). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu24*) in the AIP gene. It is expected to result in an absent or disrupted protein product.
GeneReviews RCV000034095 SCV000058025 not provided Somatotroph adenoma no assertion provided literature only

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