ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.692C>T (p.Thr231Met)

gnomAD frequency: 0.00004  dbSNP: rs532170807
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000937880 SCV001083674 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025814 SCV001188075 benign Hereditary cancer-predisposing syndrome 2023-06-08 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.
Baylor Genetics RCV001294202 SCV001483038 uncertain significance Somatotroph adenoma 2019-03-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000937880 SCV002599809 uncertain significance not provided 2023-05-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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