ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3963G>C (p.Glu1321Asp)

gnomAD frequency: 0.00001  dbSNP: rs587778737
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644130 SCV000765820 benign Tuberous sclerosis 2 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021539 SCV001183166 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-26 criteria provided, single submitter clinical testing The p.E1321D variant (also known as c.3963G>C), located in coding exon 32 of the TSC2 gene, results from a G to C substitution at nucleotide position 3963. The glutamic acid at codon 1321 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is 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.
Genome-Nilou Lab RCV000644130 SCV002039800 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
ITMI RCV000122230 SCV000086452 not provided not specified 2013-09-19 no assertion provided reference population

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