ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2066G>A (p.Arg689His)

gnomAD frequency: 0.00001  dbSNP: rs200827913
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163566 SCV000214125 likely benign Hereditary cancer-predisposing syndrome 2023-04-17 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001083067 SCV000552324 benign Tuberous sclerosis 1 2024-01-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001083067 SCV002040067 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996171 SCV004818703 uncertain significance Tuberous sclerosis syndrome 2023-12-07 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 689 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 4/282464 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.
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034605 SCV000043511 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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