ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6387G>C (p.Glu2129Asp)

dbSNP: rs1970381464
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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 RCV001351651 SCV001546141 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-10-16 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: 1047008). 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 glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 2129 of the CACNA1H protein (p.Glu2129Asp).
Ambry Genetics RCV003284248 SCV003987089 uncertain significance Inborn genetic diseases 2023-05-31 criteria provided, single submitter clinical testing The c.6387G>C (p.E2129D) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a G to C substitution at nucleotide position 6387, causing the glutamic acid (E) at amino acid position 2129 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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