ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.862C>T (p.Arg288Cys)

gnomAD frequency: 0.00001  dbSNP: rs770653972
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458416 SCV000552263 benign Tuberous sclerosis 1 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565985 SCV000675382 likely benign Hereditary cancer-predisposing syndrome 2021-02-09 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.
GeneDx RCV000610190 SCV000731002 likely benign not provided 2020-11-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28250423, 22014273)
Genome-Nilou Lab RCV000458416 SCV002040140 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000565985 SCV002531495 likely benign Hereditary cancer-predisposing syndrome 2021-06-05 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV004001889 SCV004840517 uncertain significance Tuberous sclerosis syndrome 2023-11-02 criteria provided, single submitter clinical testing This missense variant replaces arginine with cysteine at codon 288 of the TSC1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, 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 11/251340 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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