ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1841C>A (p.Ala614Asp)

dbSNP: rs45454398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002514169 SCV003443469 pathogenic Tuberous sclerosis 2 2023-08-16 criteria provided, single submitter clinical testing This variant disrupts the p.Ala614 amino acid residue in TSC2. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects TSC2 function (PMID: 11741832). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 49721). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with tuberous sclerosis complex (PMID: 10205261). In at least one individual the variant was observed to be de novo. This variant is also known as C1859A. This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 614 of the TSC2 protein (p.Ala614Asp).
Tuberous sclerosis database (TSC2) RCV000042985 SCV000066783 not provided Tuberous sclerosis syndrome no assertion provided curation

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