ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1172A>G (p.Glu391Gly)

dbSNP: rs796052417
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187363 SCV000240948 uncertain significance not provided 2014-07-30 criteria provided, single submitter clinical testing p.Glu391Gly (GAA>GGA): c.1172 A>G in exon 7 of the EFHC1 gene (NM_018100.3). The E391G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E391G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).

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