ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1628C>T (p.Pro543Leu)

gnomAD frequency: 0.00008  dbSNP: rs45517188
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719784 SCV000243548 likely benign not provided 2020-09-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23514105)
Invitae RCV000229301 SCV000285254 benign Tuberous sclerosis 2 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012483 SCV001172940 likely benign Hereditary cancer-predisposing syndrome 2019-03-09 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 RCV000229301 SCV002041364 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001012483 SCV002530978 likely benign Hereditary cancer-predisposing syndrome 2020-09-17 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002496677 SCV002808130 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-12-27 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042933 SCV000066730 not provided Tuberous sclerosis syndrome no assertion provided curation

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