Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540258 | SCV000632243 | likely benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002527714 | SCV003678919 | uncertain significance | Inborn genetic diseases | 2021-06-22 | criteria provided, single submitter | clinical testing | The c.809A>C (p.N270T) alteration is located in exon 7 (coding exon 6) of the CACNA1H gene. This alteration results from a A to C substitution at nucleotide position 809, causing the asparagine (N) at amino acid position 270 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003409781 | SCV004113276 | uncertain significance | CACNA1H-related condition | 2023-04-24 | criteria provided, single submitter | clinical testing | The CACNA1H c.809A>C variant is predicted to result in the amino acid substitution p.Asn270Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.068% of alleles in individuals of European (Non-Finnish) descent in gnomAD (https://gnomad.broadinstitute.org/variant/chr16-1250261-A-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |