ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1506C>T (p.Gly502=)

gnomAD frequency: 0.00004  dbSNP: rs772337076
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232989 SCV000284677 benign Tuberous sclerosis 1 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566199 SCV000675359 likely benign Hereditary cancer-predisposing syndrome 2016-04-18 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.
Genome-Nilou Lab RCV000232989 SCV002040438 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000566199 SCV002530909 likely benign Hereditary cancer-predisposing syndrome 2021-04-22 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002478836 SCV002797830 likely benign Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2021-08-09 criteria provided, single submitter clinical testing

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