ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3377_3382dup (p.Asp1126_Arg1127dup)

dbSNP: rs1387479871
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000824443 SCV000965341 likely benign Tuberous sclerosis 2 2024-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307566 SCV003988649 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-13 criteria provided, single submitter clinical testing The c.3377_3382dupATCGGG variant (also known as p.D1126_R1127dup), located in coding exon 28 of the TSC2 gene, results from an in-frame duplication of ATCGGG at nucleotide positions 3377 to 3382. This results in the duplication of 2 extra residues (DR) between codons 1126 and 1127. This amino acid region is highly conserved through mammals. In addition, the in silico prediction for this alteration is inconclusive (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.
All of Us Research Program, National Institutes of Health RCV004002864 SCV004839482 uncertain significance Tuberous sclerosis syndrome 2023-10-30 criteria provided, single submitter clinical testing

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