ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4436T>C (p.Phe1479Ser)

dbSNP: rs2096050688
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen 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.

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