ClinVar Miner

Submissions for variant NM_004446.3(EPRS1):c.1459A>G (p.Met487Val)

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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 RCV003126216 SCV002562256 pathogenic Intellectual disability 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 25). 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.635T>C/p.Ile212Thr ).

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