ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1571C>T (p.Ser524Phe)

gnomAD frequency: 0.00001  dbSNP: rs1276296733
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641984 SCV000763636 likely benign Tuberous sclerosis 1 2023-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012234 SCV001172661 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-08 criteria provided, single submitter clinical testing The p.S524F variant (also known as c.1571C>T), located in coding exon 13 of the TSC1 gene, results from a C to T substitution at nucleotide position 1571. The serine at codon 524 is replaced by phenylalanine, an amino acid with highly 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 RCV000641984 SCV002041474 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing

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