ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)

dbSNP: rs121908356
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000034106 SCV004195216 pathogenic Somatotroph adenoma 2023-10-27 criteria provided, single submitter clinical testing
Invitae RCV003555922 SCV004294891 pathogenic not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr268*) in the AIP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 63 amino acid(s) of the AIP protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with pituitary adenoma (PMID: 17341560). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 4892). This variant disrupts a region of the AIP protein in which other variant(s) (p.Arg271Trp) have been determined to be pathogenic (PMID: 17244780, 19684062, 21753072, 26186299). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005170 SCV000025347 pathogenic Pituitary adenoma predisposition 2007-05-01 no assertion criteria provided literature only
GeneReviews RCV000034106 SCV000058036 probable-pathogenic Somatotroph adenoma 2012-06-21 no assertion criteria provided curation Converted during submission to Likely pathogenic.

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