ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.5837G>A (p.Arg1946His)

gnomAD frequency: 0.00007  dbSNP: rs150366975
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785064 SCV000923619 uncertain significance Sinoatrial node dysfunction and deafness 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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, 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.

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