ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5698C>T (p.Pro1900Ser)

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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 RCV002760573 SCV003010392 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-03-29 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. 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 proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1900 of the CACNA1H protein (p.Pro1900Ser).
Ambry Genetics RCV002735751 SCV003657276 uncertain significance Inborn genetic diseases 2022-11-17 criteria provided, single submitter clinical testing The c.5698C>T (p.P1900S) alteration is located in exon 33 (coding exon 32) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 5698, causing the proline (P) at amino acid position 1900 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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