ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.429C>G (p.Phe143Leu)

gnomAD frequency: 0.00003  dbSNP: rs137854406
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431983 SCV000518365 likely benign not specified 2015-08-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000431983 SCV000540603 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Functional studies do not suggest impact to protein; Absent from ExAC
Labcorp Genetics (formerly Invitae), Labcorp RCV000476314 SCV000556496 likely benign Tuberous sclerosis 2 2024-12-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000476314 SCV002041063 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV002287356 SCV002577822 uncertain significance See cases 2021-12-10 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2,BP1
Ambry Genetics RCV002326763 SCV002626710 likely benign Hereditary cancer-predisposing syndrome 2020-06-09 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.
Tuberous sclerosis database (TSC2) RCV000043165 SCV000066964 not provided Tuberous sclerosis syndrome no assertion provided curation

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