ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1594G>C (p.Glu532Gln)

dbSNP: rs149222396
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001039944 SCV001203495 benign Tuberous sclerosis 2 2023-11-11 criteria provided, single submitter clinical testing
GeneDx RCV001772222 SCV001992282 uncertain significance not provided 2019-04-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001039944 SCV002040619 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002400234 SCV002706829 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-18 criteria provided, single submitter clinical testing The p.E532Q variant (also known as c.1594G>C), located in coding exon 14 of the TSC2 gene, results from a G to C substitution at nucleotide position 1594. The glutamic acid at codon 532 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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