ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3851A>G (p.Gln1284Arg)

gnomAD frequency: 0.00004  dbSNP: rs944693159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644199 SCV000765889 benign Tuberous sclerosis 2 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358833 SCV002621507 uncertain significance Hereditary cancer-predisposing syndrome 2020-05-20 criteria provided, single submitter clinical testing The p.Q1284R variant (also known as c.3851A>G), located in coding exon 31 of the TSC2 gene, results from an A to G substitution at nucleotide position 3851. The glutamine at codon 1284 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002493023 SCV002803984 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-12-16 criteria provided, single submitter clinical testing

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