ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2877C>G (p.Asn959Lys)

gnomAD frequency: 0.00001  dbSNP: rs147523833
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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 RCV000686410 SCV000813928 benign Tuberous sclerosis 2 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016871 SCV001177872 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-26 criteria provided, single submitter clinical testing The p.N959K variant (also known as c.2877C>G), located in coding exon 25 of the TSC2 gene, results from a C to G substitution at nucleotide position 2877. The asparagine at codon 959 is replaced by lysine, an amino acid with similar properties. This amino acid position is not 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.
Genome-Nilou Lab RCV000686410 SCV002040730 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465558 SCV004205128 uncertain significance Isolated focal cortical dysplasia type II 2024-02-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004248 SCV004828274 uncertain significance Tuberous sclerosis syndrome 2023-05-30 criteria provided, single submitter clinical testing This missense variant replaces asparagine with lysine at codon 959 of the TSC2 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 TSC2-related disorders in the literature. This variant has been identified in 1/31396 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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