ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu)

gnomAD frequency: 0.00048  dbSNP: rs137854214
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000459470 SCV000518089 benign not provided 2018-07-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22903760)
Invitae RCV001081201 SCV000556677 benign Tuberous sclerosis 2 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564954 SCV000675505 likely benign Hereditary cancer-predisposing syndrome 2018-10-18 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.
CeGaT Center for Human Genetics Tuebingen RCV000459470 SCV001150725 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing TSC2: BP4, BS1
Genome-Nilou Lab RCV001081201 SCV002040284 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000564954 SCV002534051 benign Hereditary cancer-predisposing syndrome 2021-02-23 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003924998 SCV004740855 likely benign TSC2-related condition 2021-11-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Tuberous sclerosis database (TSC2) RCV000042630 SCV000066424 not provided Tuberous sclerosis syndrome no assertion provided curation

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