ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3439A>G (p.Ser1147Gly)

gnomAD frequency: 0.00008  dbSNP: rs780122141
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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 RCV000518591 SCV000612579 benign not specified 2017-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000536491 SCV000632131 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004601191 SCV005099703 uncertain significance Inborn genetic diseases 2024-05-24 criteria provided, single submitter clinical testing The c.3439A>G (p.S1147G) alteration is located in exon 17 (coding exon 16) of the CACNA1H gene. This alteration results from a A to G substitution at nucleotide position 3439, causing the serine (S) at amino acid position 1147 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004735586 SCV005352114 benign CACNA1H-related disorder 2024-08-08 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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