ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2315C>A (p.Ala772Glu)

dbSNP: rs397514984
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001853089 SCV002205012 uncertain significance Tuberous sclerosis 2 2023-05-23 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of TSC2-related conditions (PMID: 22903760). This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 772 of the TSC2 protein (p.Ala772Glu). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 64979). 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. Experimental studies have shown that this missense change does not substantially affect TSC2 function (PMID: 22903760). 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.
Tuberous sclerosis database (TSC2) RCV000055182 SCV000083400 not provided Tuberous sclerosis syndrome no assertion provided curation

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