ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg)

gnomAD frequency: 0.00007  dbSNP: rs367963898
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079443 SCV000262215 benign Tuberous sclerosis 2 2023-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV001009773 SCV001169880 likely benign Hereditary cancer-predisposing syndrome 2017-09-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina RCV000055159 SCV001277273 uncertain significance Tuberous sclerosis syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001079443 SCV002041123 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001009773 SCV002532740 likely benign Hereditary cancer-predisposing syndrome 2021-09-07 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000055159 SCV004817064 uncertain significance Tuberous sclerosis syndrome 2023-11-02 criteria provided, single submitter clinical testing This missense variant replaces lysine with arginine at codon 347 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 tuberous sclerosis complex in the literature. This variant has been identified in 11/282720 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.
Tuberous sclerosis database (TSC2) RCV000055159 SCV000083377 not provided Tuberous sclerosis syndrome no assertion provided curation

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