ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5686G>A (p.Ala1896Thr)

dbSNP: rs1324632906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001302357 SCV001491563 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2021-02-01 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CACNA1H-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 1896 of the CACNA1H protein (p.Ala1896Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.
Ambry Genetics RCV004601439 SCV005099725 uncertain significance Inborn genetic diseases 2024-04-08 criteria provided, single submitter clinical testing The c.5686G>A (p.A1896T) alteration is located in exon 33 (coding exon 32) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 5686, causing the alanine (A) at amino acid position 1896 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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