ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2008C>G (p.Pro670Ala)

dbSNP: rs1338802781
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804961 SCV000944902 uncertain significance Tuberous sclerosis 2 2023-07-28 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: 649915). 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 proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 670 of the TSC2 protein (p.Pro670Ala).
Ambry Genetics RCV003166241 SCV003911452 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-01 criteria provided, single submitter clinical testing The p.P670A variant (also known as c.2008C>G), located in coding exon 18 of the TSC2 gene, results from a C to G substitution at nucleotide position 2008. The proline at codon 670 is replaced by alanine, 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.
Baylor Genetics RCV003467408 SCV004206888 uncertain significance Isolated focal cortical dysplasia type II 2023-07-05 criteria provided, single submitter clinical testing

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