ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4717C>T (p.Arg1573Ter)

dbSNP: rs1567543511
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002272839 SCV002557243 uncertain significance Epilepsy, childhood absence, susceptibility to, 6 2019-08-28 criteria provided, single submitter clinical testing A heterozygous nonsense variant, NM_021098.2(CACNA1H):c.4717C>T, has been identified in exon 25 of 35 of the CACNA1H gene. This nonsense variant is predicted to create a change of arginine to a stop at amino acid position 1573 of the protein, NP_066921.2(CACNA1h):p.(Arg1573*), resulting in the loss of normal protein function through nonsense-mediated decay (NMD). The variant is absent in the gnomAD population database. This variant has not been previously reported in clinical cases. Based on the information available at the time of curation, this variant has been classified as VARIANT of UNCERTAIN SIGNIFICANCE (VUS).

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