ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5665G>A (p.Gly1889Arg)

gnomAD frequency: 0.00014  dbSNP: rs201018826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001051026 SCV001215159 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-08-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004800674 SCV005423029 uncertain significance not specified 2024-10-07 criteria provided, single submitter clinical testing Variant summary: CACNA1H c.5665G>A (p.Gly1889Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.1e-05 in 159120 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5665G>A in individuals affected with Idiopathic Generalized Epilepsy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 847473). Based on the evidence outlined above, the variant was classified as uncertain significance.
Ambry Genetics RCV004963040 SCV005552809 uncertain significance Inborn genetic diseases 2024-09-26 criteria provided, single submitter clinical testing The c.5665G>A (p.G1889R) alteration is located in exon 33 (coding exon 32) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 5665, causing the glycine (G) at amino acid position 1889 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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