ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.516C>T (p.Asp172=)

gnomAD frequency: 0.03152  dbSNP: rs2276020
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000381922 SCV000373578 benign Somatotroph adenoma 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV000567019 SCV000664961 benign Hereditary cancer-predisposing syndrome 2016-12-13 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV001520978 SCV001730218 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001520978 SCV001756751 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000567019 SCV002535448 benign Hereditary cancer-predisposing syndrome 2020-08-12 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000381922 SCV004015466 benign Somatotroph adenoma 2023-07-07 criteria provided, single submitter clinical testing

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