ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1601T>G (p.Val534Gly)

dbSNP: rs924098595
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460751 SCV000544392 likely benign Tuberous sclerosis 2 2023-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571306 SCV000675717 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-12 criteria provided, single submitter clinical testing The p.V534G variant (also known as c.1601T>G), located in coding exon 15 of the TSC2 gene, results from a T to G substitution at nucleotide position 1601. The valine at codon 534 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly 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.
Genome-Nilou Lab RCV000460751 SCV002039561 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470408 SCV004206903 uncertain significance Isolated focal cortical dysplasia type II 2023-06-16 criteria provided, single submitter clinical testing

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