ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3377A>G (p.Asn1126Ser)

gnomAD frequency: 0.00001  dbSNP: rs755440575
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311496 SCV001501686 uncertain significance not provided 2020-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001343761 SCV001537768 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-11-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1127 of the CACNA1A protein (p.Asn1127Ser). This variant is present in population databases (rs755440575, 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: 1013140). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CACNA1A protein function with a negative 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 RCV001311496 SCV001776707 uncertain significance not provided 2021-05-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Athena Diagnostics RCV001311496 SCV002770774 uncertain significance not provided 2022-01-11 criteria provided, single submitter clinical testing

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