ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly)

gnomAD frequency: 0.00003  dbSNP: rs939275328
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552146 SCV000641536 likely benign Tuberous sclerosis 1 2023-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413536 SCV002722831 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-29 criteria provided, single submitter clinical testing The p.D650G variant (also known as c.1949A>G), located in coding exon 13 of the TSC1 gene, results from an A to G substitution at nucleotide position 1949. The aspartic acid at codon 650 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
GeneDx RCV003235281 SCV003933458 uncertain significance not provided 2023-06-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
All of Us Research Program, National Institutes of Health RCV003999200 SCV004832374 uncertain significance Tuberous sclerosis syndrome 2023-08-28 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with glycine at codon 650 of the TSC1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, 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 1/31412 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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