ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3867_3869del (p.Arg1289del)

dbSNP: rs1567514084
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694367 SCV000822809 uncertain significance Tuberous sclerosis 2 2023-05-07 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 572870). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.3867_3869del, results in the deletion of 1 amino acid(s) of the TSC2 protein (p.Arg1289del), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV002352152 SCV002620011 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-17 criteria provided, single submitter clinical testing The c.3867_3869delGAG variant (also known as p.R1289del) is located in coding exon 31 of the TSC2 gene. This variant results from an in-frame GAG deletion at nucleotide positions 3867 to 3869. This results in the in-frame deletion of an arginine at codon 1289. This amino acid region is highly 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.
CeGaT Center for Human Genetics Tuebingen RCV003392529 SCV004129847 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing TSC2: PM2, PM4:Supporting

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