ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2848G>C (p.Ala950Pro)

dbSNP: rs886051792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000380149 SCV000395620 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000644124 SCV000765814 uncertain significance Tuberous sclerosis 2 2022-09-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TSC2-related conditions. 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: 318324). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 950 of the TSC2 protein (p.Ala950Pro).
Genome-Nilou Lab RCV000644124 SCV002040727 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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