ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1182del (p.Gln395fs)

gnomAD frequency: 0.00001  dbSNP: rs753549012
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000280539 SCV000340282 uncertain significance not provided 2016-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765644 SCV001490158 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-08-09 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: 286732). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. This variant is present in population databases (rs753549012, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Gln395Argfs*20) in the EFHC1 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 EFHC1 cause disease.

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