ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile)

gnomAD frequency: 0.00001  dbSNP: rs775420987
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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 RCV000543231 SCV000641641 benign Tuberous sclerosis 1 2023-11-17 criteria provided, single submitter clinical testing
GeneDx RCV001731763 SCV001982807 likely benign not provided 2021-04-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000543231 SCV002040320 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323976 SCV002606265 likely benign Hereditary cancer-predisposing syndrome 2021-03-23 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001731763 SCV002774868 uncertain significance not provided 2021-08-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999223 SCV004829176 uncertain significance Tuberous sclerosis syndrome 2023-06-26 criteria provided, single submitter clinical testing This missense variant replaces threonine with isoleucine at codon 1119 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 7/251432 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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