ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln)

gnomAD frequency: 0.00002  dbSNP: rs796053461
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705063 SCV000243510 likely benign not provided 2018-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000233178 SCV000284714 likely benign Tuberous sclerosis 1 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561979 SCV000675424 likely benign Hereditary cancer-predisposing syndrome 2021-10-21 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.
Genome-Nilou Lab RCV000233178 SCV002040344 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001705063 SCV004236973 uncertain significance not provided 2023-11-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996857 SCV004820616 uncertain significance Tuberous sclerosis syndrome 2023-12-18 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 1027 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 5/249350 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.
PreventionGenetics, part of Exact Sciences RCV004745259 SCV005362831 likely benign TSC1-related disorder 2024-07-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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