ClinVar Miner

Submissions for variant NC_000016.9:g.(?_2135165)_(2138160_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001378864 SCV001576546 likely pathogenic Tuberous sclerosis 2 2020-04-11 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Glu1552 amino acid residue in TSC2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11112665, 22903760). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with TSC2-related conditions. This variant is an in-frame deletion of the genomic region encompassing exon(s) 36-40 of the TSC2 gene. It preserves the integrity of the reading frame.

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