ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1885C>T (p.Leu629=)

dbSNP: rs570409651
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719989 SCV000515026 benign not provided 2020-05-29 criteria provided, single submitter clinical testing
Invitae RCV000457144 SCV000556548 benign Tuberous sclerosis 2 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571873 SCV000675651 likely benign Hereditary cancer-predisposing syndrome 2016-12-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000457144 SCV002041401 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942333 SCV004763236 benign TSC2-related condition 2021-02-01 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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