ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile)

gnomAD frequency: 0.00001  dbSNP: rs756562814
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996795 SCV001151721 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Invitae RCV001341763 SCV001535654 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-08-01 criteria provided, single submitter clinical testing 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CACNA1A protein function. ClinVar contains an entry for this variant (Variation ID: 808479). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant is present in population databases (rs756562814, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 605 of the CACNA1A protein (p.Val605Ile). 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.
New York Genome Center RCV001839025 SCV002099019 uncertain significance Developmental and epileptic encephalopathy, 42 2021-07-02 criteria provided, single submitter clinical testing
GeneDx RCV000996795 SCV003926194 uncertain significance not provided 2022-11-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
GenomeConnect - Brain Gene Registry RCV000996795 SCV004801653 not provided not provided no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 11-23-2022 by GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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