ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1309A>G (p.Arg437Gly)

dbSNP: rs776277918
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003770486 SCV001483505 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-07-12 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 998730). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 437 of the EFHC1 protein (p.Arg437Gly).
Ambry Genetics RCV004035612 SCV004862656 uncertain significance not specified 2023-09-20 criteria provided, single submitter clinical testing The c.1309A>G (p.R437G) alteration is located in exon 8 (coding exon 8) of the EFHC1 gene. This alteration results from a A to G substitution at nucleotide position 1309, causing the arginine (R) at amino acid position 437 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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