ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3304G>A (p.Val1102Met)

dbSNP: rs775584262
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644133 SCV000765823 benign Tuberous sclerosis 2 2023-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019823 SCV001181229 likely benign Hereditary cancer-predisposing syndrome 2023-04-27 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 RCV001756075 SCV001997308 uncertain significance not provided 2019-12-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000644133 SCV002040761 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459536 SCV004205088 uncertain significance Isolated focal cortical dysplasia type II 2023-05-26 criteria provided, single submitter clinical testing

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