ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.647G>A (p.Arg216Gln)

gnomAD frequency: 0.00004  dbSNP: rs77682973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193402 SCV000247258 uncertain significance not specified 2014-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765218 SCV000552799 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-02-10 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 210911). This missense change has been observed in at least one individual who was not affected with EFHC1-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. This variant is present in population databases (rs77682973, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 216 of the EFHC1 protein (p.Arg216Gln).
Ambry Genetics RCV000193402 SCV003733525 uncertain significance not specified 2022-11-18 criteria provided, single submitter clinical testing The c.647G>A (p.R216Q) alteration is located in exon 4 (coding exon 4) of the EFHC1 gene. This alteration results from a G to A substitution at nucleotide position 647, causing the arginine (R) at amino acid position 216 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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