ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3443A>C (p.Gln1148Pro)

dbSNP: rs1217539900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317987 SCV000849555 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-21 criteria provided, single submitter clinical testing The p.Q1148P variant (also known as c.3443A>C), located in coding exon 29 of the TSC2 gene, results from an A to C substitution at nucleotide position 3443. The glutamine at codon 1148 is replaced by proline, an amino acid with similar 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.
Invitae RCV001237675 SCV001410447 uncertain significance Tuberous sclerosis 2 2023-02-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1148 of the TSC2 protein (p.Gln1148Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 589043). 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. 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.
Genome-Nilou Lab RCV001237675 SCV002040772 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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