ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5203A>G (p.Ile1735Val)

gnomAD frequency: 0.00001  dbSNP: rs781407050
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550602 SCV000644615 benign Tuberous sclerosis 2 2023-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000604770 SCV000723225 likely benign not specified 2017-09-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV000550602 SCV002039927 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341373 SCV002641983 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-02 criteria provided, single submitter clinical testing The p.I1735V variant (also known as c.5203A>G), located in coding exon 40 of the TSC2 gene, results from an A to G substitution at nucleotide position 5203. The isoleucine at codon 1735 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
PreventionGenetics, part of Exact Sciences RCV003424117 SCV004116952 uncertain significance TSC2-related condition 2022-10-12 criteria provided, single submitter clinical testing The TSC2 c.5203A>G variant is predicted to result in the amino acid substitution p.Ile1735Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2138270-A-G). 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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