ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2111A>G (p.Tyr704Cys)

dbSNP: rs752054698
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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 RCV001079196 SCV000641551 likely benign Tuberous sclerosis 1 2024-06-21 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000595767 SCV000707329 uncertain significance not provided 2017-04-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001079196 SCV002040063 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420444 SCV002725243 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-18 criteria provided, single submitter clinical testing The p.Y704C variant (also known as c.2111A>G), located in coding exon 15 of the TSC1 gene, results from an A to G substitution at nucleotide position 2111. The tyrosine at codon 704 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
All of Us Research Program, National Institutes of Health RCV004802151 SCV005426936 uncertain significance Tuberous sclerosis syndrome 2024-07-29 criteria provided, single submitter clinical testing This missense variant replaces tyrosine with cysteine at codon 704 of the TSC1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function. 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 1/251306 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 RCV004745457 SCV005341475 uncertain significance TSC1-related disorder 2024-03-30 no assertion criteria provided clinical testing The TSC1 c.2111A>G variant is predicted to result in the amino acid substitution p.Tyr704Cys. This variant has been reported in an individual with suspected Tuberous sclerosis complex (Table S1, Meng et al. 2021. PubMed ID: 32917966). This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. This variant is interpreted as uncertain or likely benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/466064/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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