ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.391C>A (p.Leu131Met)

dbSNP: rs796053239
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189325 SCV000242960 uncertain significance not provided 2012-05-08 criteria provided, single submitter clinical testing p.Leu131Met (CTG>ATG): c.391 C>A in exon 6 of the SLC25A22 gene (NM_024698.5). The L131M 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 L131M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is highly conserved across 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 INFANT-EPI,EPILEPSY panel(s).

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