Submissions for variant NM_018100.4(EFHC1):c.682_692del (p.Asp228fs)

dbSNP: rs775980459

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002481468	SCV000552796	uncertain significance	Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1	2019-08-22	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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in EFHC1 cause disease. This variant has not been reported in the literature in individuals with EFHC1-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 ExAC database. This sequence change creates a premature translational stop signal (p.Asp228Thrfs*8) in the EFHC1 gene. It is expected to result in an absent or disrupted protein product.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001810957	SCV001477677	uncertain significance	not provided	2020-02-14	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002481468	SCV002790797	uncertain significance	Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1	2022-02-15	criteria provided, single submitter	clinical testing