ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn)

gnomAD frequency: 0.00002  dbSNP: rs754581272
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419231 SCV000528969 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing The D1216N variant in the CACNA1H gene has not been reported previously as a pathogenic variant,nor as a benign variant, to our knowledge. This variant was not observed in approximately 6500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. The D1216N variant is asemi-conservative amino acid substitution, which may impact secondary protein structure as theseresidues differ in some properties. This substitution occurs at a position that is not conserved. In silicoanalysis is inconsistent in its predictions as to whether or not the variant is damaging to the proteinstructure/function. We interpret D1216N as a variant of uncertain significance.
Invitae RCV000553048 SCV000632138 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-04-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481318 SCV002793707 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243125 SCV003951833 uncertain significance Inborn genetic diseases 2023-05-04 criteria provided, single submitter clinical testing The c.3646G>A (p.D1216N) alteration is located in exon 17 (coding exon 16) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 3646, causing the aspartic acid (D) at amino acid position 1216 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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