ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2272C>A (p.Gln758Lys)

dbSNP: rs397514783
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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 RCV001229466 SCV001401911 likely benign Tuberous sclerosis 1 2024-11-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004831 SCV004829811 uncertain significance Tuberous sclerosis syndrome 2023-08-08 criteria provided, single submitter clinical testing This missense variant replaces glutamine with lysine at codon 758 of the TSC1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). 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 1/251404 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.
Ambry Genetics RCV004679017 SCV005173412 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-14 criteria provided, single submitter clinical testing The p.Q758K variant (also known as c.2272C>A), located in coding exon 16 of the TSC1 gene, results from a C to A substitution at nucleotide position 2272. The glutamine at codon 758 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005050298 SCV005674956 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2024-06-05 criteria provided, single submitter clinical testing

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