ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4879G>A (p.Asp1627Asn)

gnomAD frequency: 0.00004  dbSNP: rs573209959
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695745 SCV000824262 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1628 of the CACNA1A protein (p.Asp1628Asn). This variant is present in population databases (rs573209959, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 573939). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CACNA1A protein function with a positive predictive value of 95%. 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.
GeneDx RCV002510961 SCV002820463 uncertain significance not provided 2022-07-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002532322 SCV003760426 uncertain significance Inborn genetic diseases 2021-05-17 criteria provided, single submitter clinical testing The c.4882G>A (p.D1628N) alteration is located in exon 31 (coding exon 31) of the CACNA1A gene. This alteration results from a G to A substitution at nucleotide position 4882, causing the aspartic acid (D) at amino acid position 1628 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV002510961 SCV004137993 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing CACNA1A: PP2, PP3

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