ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3520C>T (p.Arg1174Trp)

gnomAD frequency: 0.00002  dbSNP: rs529298825
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082094 SCV000544468 benign Tuberous sclerosis 2 2023-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000841759 SCV000983742 likely benign not provided 2018-04-05 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.
Ambry Genetics RCV001020514 SCV001182003 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-31 criteria provided, single submitter clinical testing The p.R1174W variant (also known as c.3520C>T), located in coding exon 29 of the TSC2 gene, results from a C to T substitution at nucleotide position 3520. The arginine at codon 1174 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is poorly 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.
Genome-Nilou Lab RCV001082094 SCV002039762 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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