ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.783C>T (p.Tyr261=)

gnomAD frequency: 0.00001  dbSNP: rs267606576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026864 SCV001189331 likely benign Hereditary cancer-predisposing syndrome 2017-05-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001473813 SCV001677974 likely benign not provided 2023-10-28 criteria provided, single submitter clinical testing
GeneDx RCV001473813 SCV002765473 uncertain significance not provided 2022-06-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
GeneReviews RCV000034104 SCV000058034 not provided Somatotroph adenoma no assertion provided literature only

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