ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.483C>G (p.Phe161Leu)

dbSNP: rs119454947
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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 RCV001982480 SCV002223812 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2021-03-29 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 missense change has been observed in individual(s) with childhood absence epilepsy (PMID: 12891677). This variant is present in population databases (rs119454947, ExAC 0.008%). This sequence change replaces phenylalanine with leucine at codon 161 of the CACNA1H protein (p.Phe161Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine.
Fulgent Genetics, Fulgent Genetics RCV002484740 SCV002790481 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-09-25 criteria provided, single submitter clinical testing

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