ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.3112AGC[3] (p.Ser1041_Ser1043del)

dbSNP: rs2234980
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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 RCV000801076 SCV000940833 uncertain significance Tuberous sclerosis 1 2023-09-25 criteria provided, single submitter clinical testing This variant, c.3121_3129del, results in the deletion of 3 amino acid(s) of the TSC1 protein (p.Ser1041_Ser1043del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs759531937, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TSC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 646728). 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.
Fulgent Genetics, Fulgent Genetics RCV002507386 SCV002816922 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2021-07-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028050 SCV005035014 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-23 criteria provided, single submitter clinical testing The c.3121_3129delAGCAGCAGC variant (also known as p.S1041_S1043del) is located in coding exon 21 of the TSC1 gene. This variant results from an in-frame AGCAGCAGC deletion at nucleotide positions 3121 to 3129. This results in the in-frame deletion of 3 serine residues at codons 1041 to 1043. These amino acid positions are 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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