ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1221dup (p.Asp408fs)

dbSNP: rs754483740
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003766606 SCV000552792 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2016-11-19 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 7 of the EFHC1 mRNA (c.1221dupA), causing a frameshift at codon 408. This creates a premature translational stop signal (p.Asp408Argfs*4) and is expected to result in an absent or disrupted protein product. The frequency data for this variant (rs754483740) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a EFHC1-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in EFHC1 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance.

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