ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2200G>A (p.Val734Ile)

gnomAD frequency: 0.00001  dbSNP: rs1567519932
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692208 SCV000820020 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-07-06 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 CACNA1H protein function. ClinVar contains an entry for this variant (Variation ID: 571156). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 734 of the CACNA1H protein (p.Val734Ile).
Preventiongenetics, part of Exact Sciences RCV003411610 SCV004111884 uncertain significance CACNA1H-related condition 2023-03-08 criteria provided, single submitter clinical testing The CACNA1H c.2200G>A variant is predicted to result in the amino acid substitution p.Val734Ile. To our knowledge, this variant has not been reported in association with disorders in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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