ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.992T>C (p.Leu331Pro)

dbSNP: rs796052437
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187410 SCV000240997 uncertain significance not provided 2015-01-09 criteria provided, single submitter clinical testing p.Leu331Pro (CTG>CCG): c.992 T>C in exon 4 of the EPM2A gene (NM_005670.3). The L331P 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 L331P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved across species, and Proline is observed at this position in several other species. 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 EPILEPSY panel(s).

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