ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2631C>T (p.Asn877=)

gnomAD frequency: 0.00001  dbSNP: rs45517251
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865635 SCV001006631 likely benign Tuberous sclerosis 2 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001582536 SCV001812824 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000865635 SCV002039230 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426585 SCV002741243 likely benign Hereditary cancer-predisposing syndrome 2021-02-03 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.
Tuberous sclerosis database (TSC2) RCV000042476 SCV000066267 not provided Tuberous sclerosis syndrome no assertion provided curation

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