ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.145G>A (p.Val49Met)

gnomAD frequency: 0.00006  dbSNP: rs1063385
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000034063 SCV000373574 likely benign Somatotroph adenoma 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV000563699 SCV000672437 likely benign Hereditary cancer-predisposing syndrome 2020-06-25 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Invitae RCV000897518 SCV001041666 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Mendelics RCV000034063 SCV001138358 uncertain significance Somatotroph adenoma 2019-05-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563699 SCV002535431 likely benign Hereditary cancer-predisposing syndrome 2021-02-23 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003894847 SCV004715337 likely benign AIP-related disorder 2023-03-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GeneReviews RCV000034063 SCV000057993 not provided Somatotroph adenoma no assertion provided literature only

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