ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg)

gnomAD frequency: 0.00003  dbSNP: rs1433723046
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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 RCV000534632 SCV000641603 benign Tuberous sclerosis 1 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438382 SCV002748568 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-29 criteria provided, single submitter clinical testing The p.K977R variant (also known as c.2930A>G), located in coding exon 20 of the TSC1 gene, results from an A to G substitution at nucleotide position 2930. The lysine at codon 977 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
GeneDx RCV003329299 SCV004036620 uncertain significance not provided 2023-03-21 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: 18466115)
All of Us Research Program, National Institutes of Health RCV003999212 SCV004815902 uncertain significance Tuberous sclerosis syndrome 2023-02-24 criteria provided, single submitter clinical testing This missense variant replaces lysine with arginine at codon 977 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 tuberous sclerosis complex in the literature. This variant has been identified in 1/251476 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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