ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.233C>A (p.Thr78Lys)

dbSNP: rs1473122688
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002269692 SCV002553018 uncertain significance not provided 2022-01-21 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
Labcorp Genetics (formerly Invitae), Labcorp RCV003101536 SCV003252376 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-09-12 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: 1698269). 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 threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 78 of the CACNA1H protein (p.Thr78Lys).
Ambry Genetics RCV004965850 SCV005552825 uncertain significance Inborn genetic diseases 2024-09-02 criteria provided, single submitter clinical testing The c.233C>A (p.T78K) alteration is located in exon 2 (coding exon 1) of the CACNA1H gene. This alteration results from a C to A substitution at nucleotide position 233, causing the threonine (T) at amino acid position 78 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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