ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.345G>C (p.Leu115=)

gnomAD frequency: 0.00001  dbSNP: rs996404334
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732062 SCV000859950 uncertain significance not provided 2018-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000732062 SCV002437821 likely benign not provided 2024-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458344 SCV002617181 likely benign Hereditary cancer-predisposing syndrome 2022-02-22 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.
GeneDx RCV000732062 SCV005391882 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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