ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2303G>A (p.Arg768His)

gnomAD frequency: 0.00002  dbSNP: rs1033725987
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000467121 SCV000552316 benign Tuberous sclerosis 1 2024-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575617 SCV000675401 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-11 criteria provided, single submitter clinical testing The p.R768H variant (also known as c.2303G>A), located in coding exon 16 of the TSC1 gene, results from a G to A substitution at nucleotide position 2303. The arginine at codon 768 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000764812 SCV000895963 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000467121 SCV002040053 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004802015 SCV005426927 uncertain significance Tuberous sclerosis syndrome 2024-08-13 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 768 of the TSC1 protein. Computational prediction suggests that this variant may not impact protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC1-related disorders in the literature. This variant has been identified in 2/251450 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.

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