ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.22G>A (p.Gly8Arg)

gnomAD frequency: 0.00001  dbSNP: rs773784532
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001015114 SCV001175910 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-06 criteria provided, single submitter clinical testing The p.G8R variant (also known as c.22G>A), located in coding exon 1 of the TSC1 gene, results from a G to A substitution at nucleotide position 22. The glycine at codon 8 is replaced by arginine, an amino acid with dissimilar properties. 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.
Fulgent Genetics, Fulgent Genetics RCV002479210 SCV002785551 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2022-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002551774 SCV003521744 likely benign Tuberous sclerosis 1 2023-08-30 criteria provided, single submitter clinical testing

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