ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1776G>A (p.Thr592=)

gnomAD frequency: 0.00001  dbSNP: rs118203580
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569926 SCV000675420 likely benign Hereditary cancer-predisposing syndrome 2016-01-26 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 RCV001697389 SCV000719540 likely benign not provided 2018-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000870087 SCV001011562 likely benign Tuberous sclerosis 1 2023-12-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000870087 SCV002040415 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506385 SCV002811955 likely benign Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2021-09-30 criteria provided, single submitter clinical testing

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