ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1327G>A (p.Gly443Arg)

dbSNP: rs760470520
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071789 SCV001237110 likely benign Tuberous sclerosis 1 2024-07-08 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV002307679 SCV002009249 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001071789 SCV002039275 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV002307679 SCV002601392 uncertain significance not provided 2022-05-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004678953 SCV005173434 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-16 criteria provided, single submitter clinical testing The p.G443R variant (also known as c.1327G>A), located in coding exon 11 of the TSC1 gene, results from a G to A substitution at nucleotide position 1327. The glycine at codon 443 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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