ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn)

gnomAD frequency: 0.00001  dbSNP: rs148615781
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000309023 SCV000464160 uncertain significance Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002229977 SCV000963755 uncertain significance Typical absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2021-07-14 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 187 of the EFHC1 protein (p.Asp187Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs148615781, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. This missense change has been observed in at least one individual who was not affected with EFHC1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 357480). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.

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