ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2768C>G (p.Ser923Cys)

gnomAD frequency: 0.00001  dbSNP: rs587778731
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817259 SCV000957809 benign Tuberous sclerosis 2 2024-09-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256079 SCV002533328 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-22 criteria provided, single submitter curation
Ambry Genetics RCV002256079 SCV002750383 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-03 criteria provided, single submitter clinical testing The p.S923C variant (also known as c.2768C>G), located in coding exon 24 of the TSC2 gene, results from a C to G substitution at nucleotide position 2768. The serine at codon 923 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003148650 SCV003836890 uncertain significance not provided 2022-09-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24728327)
Neuberg Centre For Genomic Medicine, NCGM RCV003447498 SCV004175828 uncertain significance Isolated focal cortical dysplasia type II 2023-02-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997363 SCV004822547 uncertain significance Tuberous sclerosis syndrome 2023-06-28 criteria provided, single submitter clinical testing
ITMI RCV000122215 SCV000086436 not provided not specified 2013-09-19 no assertion provided reference population

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