ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1639A>G (p.Ser547Gly)

gnomAD frequency: 0.00003  dbSNP: rs759767484
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003768976 SCV001233932 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-10-24 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 862136). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. This variant is present in population databases (rs759767484, gnomAD 0.009%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 547 of the EFHC1 protein (p.Ser547Gly).
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238300 SCV002011555 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030688 SCV003535466 uncertain significance not specified 2021-10-06 criteria provided, single submitter clinical testing The c.1639A>G (p.S547G) alteration is located in exon 9 (coding exon 9) of the EFHC1 gene. This alteration results from a A to G substitution at nucleotide position 1639, causing the serine (S) at amino acid position 547 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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