ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2188G>A (p.Val730Met)

dbSNP: rs1555506559
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552865 SCV000644329 uncertain significance Tuberous sclerosis 2 2023-08-05 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TSC2 protein function. ClinVar contains an entry for this variant (Variation ID: 467929). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 730 of the TSC2 protein (p.Val730Met).
Ambry Genetics RCV002431632 SCV002730612 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-30 criteria provided, single submitter clinical testing The p.V730M variant (also known as c.2188G>A), located in coding exon 19 of the TSC2 gene, results from a G to A substitution at nucleotide position 2188. The valine at codon 730 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Baylor Genetics RCV004568830 SCV005054450 uncertain significance Isolated focal cortical dysplasia type II 2024-03-09 criteria provided, single submitter clinical testing

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