ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2949_2957del (p.985AAE[1])

dbSNP: rs767902029
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460358 SCV000552332 likely benign Tuberous sclerosis 1 2024-09-23 criteria provided, single submitter clinical testing
GeneDx RCV003324752 SCV004030814 uncertain significance not provided 2023-02-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 3 amino acids in a non-repeat region; 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; This variant is associated with the following publications: (PMID: 18466115)
All of Us Research Program, National Institutes of Health RCV004001902 SCV004821085 uncertain significance Tuberous sclerosis syndrome 2023-03-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022870 SCV005034925 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-10 criteria provided, single submitter clinical testing The c.2949_2957delAGAAGCAGC variant (also known as p.A988_E990del) is located in coding exon 20 of the TSC1 gene. This variant results from an in-frame AGAAGCAGC deletion at nucleotide positions 2949 to 2957. This results in the in-frame deletion of 3 amino acids (AAE) at codon 988. This amino acid region 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.

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