ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile)

gnomAD frequency: 0.00003  dbSNP: rs45490993
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469641 SCV000556690 benign Tuberous sclerosis 2 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563588 SCV000675522 likely benign Hereditary cancer-predisposing syndrome 2019-02-04 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.
GeneDx RCV001551734 SCV001772305 likely benign not provided 2020-08-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24686850)
Genome-Nilou Lab RCV000469641 SCV002039887 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563588 SCV002534003 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-13 criteria provided, single submitter curation
Tuberous sclerosis database (TSC2) RCV000055068 SCV000083286 not provided Tuberous sclerosis syndrome no assertion provided curation

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