ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.382C>T (p.Arg128Cys)

gnomAD frequency: 0.00054  dbSNP: rs140530307
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565333 SCV000672426 benign Hereditary cancer-predisposing syndrome 2021-08-20 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Eurofins Ntd Llc (ga) RCV000733154 SCV000861183 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000733154 SCV001053750 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001554286 SCV001775528 uncertain significance Familial isolated pituitary adenoma 2021-08-05 criteria provided, single submitter clinical testing The AIP c.382C>T (p.Arg128Cys) missense change has a maximum subpopulation frequency of 0.19% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/11-67256840-C-T). In silico tools are not in agreement about the effect of this variant on protein function, but to our knowledge these predictions have not been confirmed by functional assays. This variant has been reported in individuals with pituitary adenomas (PS4_supporting; PMID: 26792934, 29074612), including two with acromegaly (PMID: 29074612). In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PS4_supporting.
Sema4, Sema4 RCV000565333 SCV002535441 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-19 criteria provided, single submitter curation
Baylor Genetics RCV003459374 SCV004195238 uncertain significance Somatotroph adenoma 2024-03-19 criteria provided, single submitter clinical testing

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