Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001281073 | SCV001451359 | uncertain significance | Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 | 2020-12-18 | criteria provided, single submitter | clinical testing | The variant c.4436T>C (p.(Phe1479Ser)) in exon 36 of the CACNA1C-gene is not found in known databases (ExAC or gnomAD), it affects a highly conserved nucleotide, a highly conserved amino acid and there is a large physicochemical difference between Phe and Ser. This variant has a pathogenic computational verdict based on in silico prediction programs. This variant was found to be de novo in our patient. ACMG criteria used for classification: PM2, PM1, PP3. |