Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001021869 | SCV001183538 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-09-25 | criteria provided, single submitter | clinical testing | The p.Q14* pathogenic mutation (also known as c.40C>T), located in coding exon 1 of the AIP gene, results from a C to T substitution at nucleotide position 40. This changes the amino acid from a glutamine to a stop codon within coding exon 1. This mutation has been reported in multiple individuals, predominantly of Finnish descent, with familial isolated pituitary adenomas (Vierimaa O et al. Science 2006 May;312(5777):1228-30; Georgitsi M et al. Proc. Natl. Acad. Sci. U.S.A. 2007 Mar;104(10):4101-5; Beckers A et al. Endocr. Rev. 2013 Apr;34(2):239-77). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Invitae | RCV003555921 | SCV004294884 | pathogenic | not provided | 2023-01-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln14*) 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 present in population databases (rs104894194, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with pituitary adenoma (PMID: 16728643). ClinVar contains an entry for this variant (Variation ID: 4886). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000005163 | SCV000025340 | pathogenic | Pituitary adenoma predisposition | 2006-05-26 | no assertion criteria provided | literature only | |
OMIM | RCV000508640 | SCV000605833 | pathogenic | Somatotroph adenoma | 2006-05-26 | no assertion criteria provided | literature only |