Submissions for variant NM_021098.3(CACNA1H):c.6727dup (p.Asp2243fs)

dbSNP: rs753624103

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001757448	SCV002007633	uncertain significance	not provided	2020-01-12	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation as the last 111 amino acids are lost and replaced with 16 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV002540628	SCV002999389	uncertain significance	Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV	2022-08-15	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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1316001). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Asp2243Glyfs*17) in the CACNA1H gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 111 amino acid(s) of the CACNA1H protein.