ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5025del (p.Leu1676fs)

dbSNP: rs137854382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003511997 SCV004296343 pathogenic Tuberous sclerosis 2 2023-08-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the TSC2 protein in which other variant(s) (p.His1746Pro) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This sequence change results in a frameshift in the TSC2 gene (p.Leu1676Trpfs*150). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 132 amino acid(s) of the TSC2 protein and extend the protein by 17 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This frameshift has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 9829910). This variant is also known as Phe1675fs. ClinVar contains an entry for this variant (Variation ID: 50003).
Tuberous sclerosis database (TSC2) RCV000043271 SCV000067073 not provided Tuberous sclerosis syndrome no assertion provided curation

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