ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.490C>T (p.Gln164Ter) (rs104895073)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001023250 SCV001185099 pathogenic Hereditary cancer-predisposing syndrome 2019-03-26 criteria provided, single submitter clinical testing The p.Q164* variant (also known as c.490C>T), located in coding exon 4 of the AIP gene, results from a C to T substitution at nucleotide position 490. This changes the amino acid from a glutamine to a stop codon within coding exon 4. One study found that this mutation drastically reduced the protein-protein binding activity of the AIP protein and identified this alteration in 1/38 familial isolated pituitary adenoma (FIPA) families (Igreja S et al. Hum. Mutat., 2010 Aug;31:950-60). This mutation has also been reported in additional individuals with FIPA (Hernández-Ramírez LC et al. J. Clin. Endocrinol. Metab., 2015 Sep;100:E1242-54) and in a German patient with acromegaly and pituitary macroadenoma diagnosed at age 18 (Schöfl C et al. J. Clin. Endocrinol. Metab., 2014 Dec;99:E2789-93). In addition to the clinical data presented in the literature, 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.
GeneReviews RCV000034084 SCV000058014 probable-pathogenic Somatotroph adenoma 2012-06-21 no assertion criteria provided curation Converted during submission to Likely pathogenic.

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