ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.818G>A (p.Arg273Lys)

dbSNP: rs1195505218
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetic Team, CHRU Montpellier RCV000768417 SCV000898499 pathogenic Early myoclonic encephalopathy 2016-11-21 criteria provided, single submitter clinical testing The p.(Arg273Lys) variant in SLC25A22 has been found in 3 patients (in the same family), in trans with another variant (p.(Ala272Glnfs*144)), classified pathogenic according to ACMG criteria. The frequency in GnomAD is 4.124e-6 (rs1195505218). Additionally, functional study in skin fibroblasts showed a glutamate metabolic dysfunction.

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