ClinVar Miner

Submissions for variant NM_004446.3(EPRS1):c.635T>C (p.Ile212Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV003126215 SCV002562205 pathogenic Global developmental delay 2021-10-26 criteria provided, single submitter clinical testing Variant was absent from population databases (gnomAD v2 and v3) and predicted pathogenic in silico (CADD phred score 28.2). It's located in the higly conserved catalytic motif named HIGH. Functional studies in-vitro showed major defects in enzymatic function. Variant was found in coumpound heterozygosity with another pathogenic variant of EPRS1 (NM_004446.3:c.1459A>G/p.Met487Val which was also classified as pathogenic). Patient presented with global developemental delay, deafness and seizures.

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