ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2788_2790delinsGAC (p.Lys930Asp)

dbSNP: rs1060500935
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001584140 SCV001819600 uncertain significance not provided 2023-03-22 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000477313 SCV002040723 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436400 SCV002751722 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-25 criteria provided, single submitter clinical testing The c.2788_2790delAAGinsGAC variant (also known as p.K930D), located in coding exon 24 of the TSC2 gene, results from an in-frame deletion of AAG and insertion of GAC at nucleotide positions 2788 to 2790. This results in the substitution of the lysine residue for an aspartic acid residue at codon 930, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000477313 SCV004672478 likely benign Tuberous sclerosis 2 2021-02-05 criteria provided, single submitter clinical testing

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