Submissions for variant NM_021098.3(CACNA1H):c.1857_1858del (p.Val621fs)

gnomAD frequency: 0.00004  dbSNP: rs759709148

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001959879	SCV002207924	uncertain significance	Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV	2023-01-13	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. ClinVar contains an entry for this variant (Variation ID: 1432477). This premature translational stop signal has been observed in individual(s) with febrile seizures (PMID: 15048902). This variant is present in population databases (rs759709148, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Val621Glyfs*34) in the CACNA1H gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CACNA1H cause disease.
Fulgent Genetics, Fulgent Genetics	RCV002491991	SCV002776683	uncertain significance	Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV	2022-04-30	criteria provided, single submitter	clinical testing