ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp)

gnomAD frequency: 0.00468  dbSNP: rs150397923
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000122235 SCV000169151 benign not specified 2014-02-12 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.
Ambry Genetics RCV000163417 SCV000213960 benign Hereditary cancer-predisposing syndrome 2014-12-09 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000223969 SCV000280630 likely benign not provided 2015-08-19 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000226742 SCV000285396 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000122235 SCV000305220 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000122235 SCV000336911 benign not specified 2015-11-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000055339 SCV000395654 likely benign Tuberous sclerosis syndrome 2018-03-12 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics RCV000226742 SCV000677548 benign Tuberous sclerosis 2 2017-05-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000226742 SCV002039450 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000122235 SCV002069998 benign not specified 2021-07-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000055339 SCV004817496 benign Tuberous sclerosis syndrome 2024-02-05 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055339 SCV000083559 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122235 SCV000086458 not provided not specified 2013-09-19 no assertion provided reference population

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