ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2882A>G (p.Glu961Gly)

gnomAD frequency: 0.00002  dbSNP: rs760762170
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563196 SCV000675433 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-29 criteria provided, single submitter clinical testing The p.E961G variant (also known as c.2882A>G), located in coding exon 20 of the TSC1 gene, results from an A to G substitution at nucleotide position 2882. The glutamic acid at codon 961 is replaced by glycine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.01% (greater than 10000 alleles tested) in our clinical cohort. This nucleotide position is highly conserved in available vertebrate species. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000796947 SCV000936482 benign Tuberous sclerosis 1 2023-07-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000796947 SCV002040339 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491142 SCV002783543 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2022-04-08 criteria provided, single submitter clinical testing

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