ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3257_3259del (p.Gly1086del)

dbSNP: rs137854302
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222697 SCV000273300 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-09 criteria provided, single submitter clinical testing The c.3257_3259delGGG variant (also known as p.G1086del) is located in coding exon 27 of the TSC2 gene. This variant results from an in-frame GGG deletion at nucleotide positions 3257 to 3259. This results in the in-frame deletion of a glycine at codon 1086. This amino acid position is well conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001062164 SCV001226944 uncertain significance Tuberous sclerosis 2 2024-11-30 criteria provided, single submitter clinical testing This variant, c.3257_3259del, results in the deletion of 1 amino acid(s) of the TSC2 protein (p.Gly1086del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs770242969, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 229926). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV001062164 SCV002040752 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997781 SCV004820633 uncertain significance Tuberous sclerosis syndrome 2024-08-23 criteria provided, single submitter clinical testing This variant causes an in-frame deletion of one amino acid at codon 1086 of the TSC2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC2-related disorders in the literature. This variant has been identified in 1/249756 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005016576 SCV005645065 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2024-01-05 criteria provided, single submitter clinical testing

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