Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000785064 | SCV000923619 | uncertain significance | Sinoatrial node dysfunction and deafness | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000785065 | SCV000923620 | uncertain significance | Aldosterone-producing adenoma with seizures and neurological abnormalities | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001856205 | SCV002128375 | uncertain significance | not provided | 2023-10-14 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1966 of the CACNA1D protein (p.Arg1966His). This variant is present in population databases (rs150366975, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with CACNA1D-related conditions. ClinVar contains an entry for this variant (Variation ID: 634554). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV002501023 | SCV002785083 | uncertain significance | Sinoatrial node dysfunction and deafness; Aldosterone-producing adenoma with seizures and neurological abnormalities | 2021-07-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002535716 | SCV003583628 | uncertain significance | Inborn genetic diseases | 2021-09-15 | criteria provided, single submitter | clinical testing | The c.5897G>A (p.R1966H) alteration is located in exon 47 (coding exon 47) of the CACNA1D gene. This alteration results from a G to A substitution at nucleotide position 5897, causing the arginine (R) at amino acid position 1966 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |