ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.683G>A (p.Arg228Gln)

dbSNP: rs1223799508
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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 RCV000796501 SCV000936019 likely benign Tuberous sclerosis 1 2023-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003344053 SCV004066702 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-30 criteria provided, single submitter clinical testing The p.R228Q variant (also known as c.683G>A), located in coding exon 6 of the TSC1 gene, results from a G to A substitution at nucleotide position 683. The arginine at codon 228 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
All of Us Research Program, National Institutes of Health RCV004001600 SCV004825037 uncertain significance Tuberous sclerosis syndrome 2023-08-15 criteria provided, single submitter clinical testing

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