ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.65G>A (p.Arg22Gln)

gnomAD frequency: 0.00003  dbSNP: rs141736779
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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 RCV000542889 SCV000641664 benign Tuberous sclerosis 1 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377089 SCV002667199 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-11 criteria provided, single submitter clinical testing The p.R22Q variant (also known as c.65G>A), located in coding exon 1 of the TSC1 gene, results from a G to A substitution at nucleotide position 65. The arginine at codon 22 is replaced by glutamine, an amino acid with highly similar properties. This alteration has been reported in a patient with a clinical diagnosis of tuberous sclerosis (Ismail NF et al. J Mol Diagn, 2017 03;19:265-276). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Myriad Genetics, Inc. RCV000542889 SCV005406181 likely benign Tuberous sclerosis 1 2024-08-27 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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