ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2196G>C (p.Gln732His)

gnomAD frequency: 0.00001  dbSNP: rs765646245
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044049 SCV001207823 benign Tuberous sclerosis 2 2024-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416360 SCV002724948 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-04 criteria provided, single submitter clinical testing The p.Q732H variant (also known as c.2196G>C), located in coding exon 19 of the TSC2 gene, results from a G to C substitution at nucleotide position 2196. The glutamine at codon 732 is replaced by histidine, 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.
Myriad Genetics, Inc. RCV001044049 SCV005406112 likely benign Tuberous sclerosis 2 2024-08-12 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.
All of Us Research Program, National Institutes of Health RCV004803400 SCV005427134 uncertain significance Tuberous sclerosis syndrome 2024-08-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004726823 SCV005339899 uncertain significance TSC2-related disorder 2024-05-30 no assertion criteria provided clinical testing The TSC2 c.2196G>C variant is predicted to result in the amino acid substitution p.Gln732His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. This variant is interpreted as uncertain or benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/841759/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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