ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5377C>G (p.Arg1793Gly)

dbSNP: rs1473538868
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793542 SCV000932898 benign Tuberous sclerosis 2 2023-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023995 SCV001185945 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-27 criteria provided, single submitter clinical testing The p.R1793G variant (also known as c.5377C>G), located in coding exon 41 of the TSC2 gene, results from a C to G substitution at nucleotide position 5377. The arginine at codon 1793 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000793542 SCV002040902 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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