ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly)

dbSNP: rs1060500961
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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 RCV000475335 SCV000544520 benign Tuberous sclerosis 2 2024-03-15 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000761103 SCV000891018 uncertain significance Tuberous sclerosis syndrome 2021-08-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000475335 SCV002040741 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436402 SCV002753466 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-22 criteria provided, single submitter clinical testing The p.D1013G variant (also known as c.3038A>G), located in coding exon 26 of the TSC2 gene, results from an A to G substitution at nucleotide position 3038. The aspartic acid at codon 1013 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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