ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.713G>A (p.Cys238Tyr) (rs267606569)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379496 SCV001577308 likely pathogenic not provided 2020-03-18 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 238 of the AIP protein (p.Cys238Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs267606569, ExAC 0.009%). 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: 41197). This variant has been reported to affect AIP protein function (PMID: 18381572, 20506337, 27253664, 29632148, 23300914). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneReviews RCV000034096 SCV000058026 probable-pathogenic Somatotroph adenoma 2012-06-21 no assertion criteria provided curation Converted during submission to Likely pathogenic.

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