ClinVar Miner

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

gnomAD frequency: 0.00209  dbSNP: rs57105517
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518689 SCV000612582 benign not specified 2017-06-26 criteria provided, single submitter clinical testing
Invitae 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.

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