ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2223C>G (p.Asp741Glu)

dbSNP: rs1402942281
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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 RCV000823811 SCV000964681 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2018-08-05 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CACNA1H-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with glutamic acid at codon 741 of the CACNA1H protein (p.Asp741Glu). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and glutamic acid.
Fulgent Genetics, Fulgent Genetics RCV002487857 SCV002785599 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029159 SCV004915132 uncertain significance Inborn genetic diseases 2023-10-20 criteria provided, single submitter clinical testing The c.2223C>G (p.D741E) alteration is located in exon 10 (coding exon 9) of the CACNA1H gene. This alteration results from a C to G substitution at nucleotide position 2223, causing the aspartic acid (D) at amino acid position 741 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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