Submissions for variant NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys)

dbSNP: rs372000875

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000693698	SCV000821579	benign	Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV	2024-01-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002493186	SCV002803914	uncertain significance	Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV	2021-11-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002531475	SCV003588214	uncertain significance	Inborn genetic diseases	2021-08-02	criteria provided, single submitter	clinical testing	The c.3757C>T (p.R1253C) alteration is located in exon 18 (coding exon 17) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 3757, causing the arginine (R) at amino acid position 1253 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573979	SCV001800625	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573979	SCV001975176	uncertain significance	not provided		no assertion criteria provided	clinical testing