ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5371G>A (p.Gly1791Ser)

dbSNP: rs45517421
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003444196 SCV004171509 uncertain significance Tuberous sclerosis 2 2023-09-08 criteria provided, single submitter clinical testing The TSC2 c.5371G>A (p.Gly1791Ser) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in individuals with tuberous sclerosis complex. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Tuberous sclerosis database (TSC2) RCV000043265 SCV000067066 not provided Tuberous sclerosis syndrome no assertion provided curation

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