Submissions for variant NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp)

gnomAD frequency: 0.00209  dbSNP: rs57105517

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000518689	SCV000612582	benign	not specified	2017-06-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000877891	SCV001020700	benign	Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV	2024-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001755762	SCV002007420	uncertain significance	not provided	2019-10-09	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002527460	SCV003626589	uncertain significance	Inborn genetic diseases	2022-07-08	criteria provided, single submitter	clinical testing	The c.4420C>T (p.R1474W) alteration is located in exon 23 (coding exon 22) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 4420, causing the arginine (R) at amino acid position 1474 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.