ClinVar Miner

Submissions for variant NM_000217.3(KCNA1):c.667A>G (p.Ile223Val)

gnomAD frequency: 0.00002  dbSNP: rs146948558
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001303541 SCV001492789 uncertain significance Episodic ataxia type 1 2022-02-05 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt KCNA1 protein function. ClinVar contains an entry for this variant (Variation ID: 1006491). This variant has not been reported in the literature in individuals affected with KCNA1-related conditions. This variant is present in population databases (rs146948558, gnomAD 0.0009%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 223 of the KCNA1 protein (p.Ile223Val).
Athena Diagnostics RCV004998805 SCV005622039 uncertain significance not provided 2024-03-28 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Computational tools predict that this variant is not damaging.
GenomeConnect, ClinGen RCV001303541 SCV002818400 not provided Episodic ataxia type 1 no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 11-03-2021 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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