ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) (rs137853983)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190056 SCV000243731 likely pathogenic not provided 2018-08-08 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in TSC2 is denoted c.1283_1285delCCT at the cDNA level and p.Ser428del (S428del) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ATCT[delCCT]ATAG. This deletion of a single Serine residue occurs at a position that is not conserved and is not located in a known functional domain. This variant was observed in at least two individuals with tuberous sclerosis complex (van Eeghen 2013, Au 2007). Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider TSC2 Ser428del to be a variant of uncertain significance.
Invitae RCV000475301 SCV000544460 likely pathogenic Tuberous sclerosis 2 2019-11-11 criteria provided, single submitter clinical testing This variant, c.1283_1285del, results in the deletion of 1 amino acid(s) of the TSC2 protein (p.Ser428del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of tuberous sclerosis complex in the literature and in the Leiden Open-source Variation Database (PMID: 17304050, 22867869, 21520333). In at least one individual the variant was observed to be de novo. 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.
Tuberous sclerosis database (TSC2) RCV000042906 SCV000066702 not provided Tuberous sclerosis syndrome no assertion provided curation

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