ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn)

dbSNP: rs863224852
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000197857 SCV000255334 likely pathogenic Episodic ataxia type 2; Spinocerebellar ataxia type 6 2014-09-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001248022 SCV001421481 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-07-30 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 302 of the CACNA1A protein (p.Asp302Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with episodic ataxia 2 (PMID: 24486772, 25326637, 27066515, 27871455). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 216896). 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%. For these reasons, this variant has been classified as Pathogenic.
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001281644 SCV001468984 likely pathogenic not provided criteria provided, single submitter clinical testing
GeneDx RCV001281644 SCV002074086 likely pathogenic not provided 2022-02-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 216896); This variant is associated with the following publications: (PMID: 27066515, 25326637, 27871455, 24486772)
CeGaT Center for Human Genetics Tuebingen RCV001281644 SCV002822529 likely pathogenic not provided 2022-12-01 criteria provided, single submitter clinical testing CACNA1A: PM2, PP4:Moderate, PS4:Moderate, PP2, PP3

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