ClinVar Miner

Submissions for variant NM_004446.3(EPRS1):c.1888A>G (p.Ile630Val)

gnomAD frequency: 0.00017  dbSNP: rs150364999
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002239518 SCV002508428 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002239518 SCV005263743 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003973353 SCV004791546 likely benign EPRS1-related disorder 2023-02-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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