ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.101A>G (p.Lys34Arg)

dbSNP: rs777988634
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570293 SCV000675626 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-07 criteria provided, single submitter clinical testing The p.K34R variant (also known as c.101A>G), located in coding exon 1 of the TSC2 gene, results from an A to G substitution at nucleotide position 101. The lysine at codon 34 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and arginine is the reference amino acid in other 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.
Invitae RCV002530345 SCV003447390 benign Tuberous sclerosis 2 2023-03-26 criteria provided, single submitter clinical testing

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