ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.806A>G (p.Asn269Ser)

gnomAD frequency: 0.00001  dbSNP: rs751311855
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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 RCV002044294 SCV002116286 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-02-02 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. This variant is present in population databases (rs751311855, gnomAD 0.001%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 269 of the CACNA1H protein (p.Asn269Ser).
Fulgent Genetics, Fulgent Genetics RCV002478098 SCV002785582 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002545347 SCV003674766 uncertain significance Inborn genetic diseases 2022-12-16 criteria provided, single submitter clinical testing The c.806A>G (p.N269S) alteration is located in exon 7 (coding exon 6) of the CACNA1H gene. This alteration results from a A to G substitution at nucleotide position 806, causing the asparagine (N) at amino acid position 269 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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