ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile)

dbSNP: rs1202676769
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214846 SCV001386551 benign Tuberous sclerosis 2 2022-08-16 criteria provided, single submitter clinical testing
GeneDx RCV001773479 SCV002003894 uncertain significance not provided 2021-04-12 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
Genome-Nilou Lab RCV001214846 SCV002040828 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327498 SCV002628270 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-16 criteria provided, single submitter clinical testing The p.V1475I variant (also known as c.4423G>A), located in coding exon 33 of the TSC2 gene, results from a G to A substitution at nucleotide position 4423. The valine at codon 1475 is replaced by isoleucine, 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.
Baylor Genetics RCV003462728 SCV004205123 uncertain significance Isolated focal cortical dysplasia type II 2021-12-22 criteria provided, single submitter clinical testing

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