ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.943A>T (p.Ile315Phe)

dbSNP: rs1057521631
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003147458 SCV003835185 uncertain significance Absence seizure 2021-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000431419 SCV000523864 likely pathogenic not provided 2016-02-09 flagged submission clinical testing The I315F variant in the EFHC1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I315F variant 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 I315F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The I315F variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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