ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1916G>A (p.Arg639Gln)

gnomAD frequency: 0.00002  dbSNP: rs753932484
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705071 SCV000243663 likely benign not provided 2020-11-27 criteria provided, single submitter clinical testing
Invitae RCV000535602 SCV000644296 likely benign Tuberous sclerosis 2 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566813 SCV000675617 likely benign Hereditary cancer-predisposing syndrome 2021-06-18 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.
Genome-Nilou Lab RCV000535602 SCV002039591 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509149 SCV000606942 not provided Tuberous sclerosis syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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