ClinVar Miner

Submissions for variant NM_018392.5(ZGRF1):c.4087G>A (p.Glu1363Lys)

gnomAD frequency: 0.01292  dbSNP: rs76187047
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249453 SCV002516764 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV000755135 SCV000882957 likely pathogenic Childhood apraxia of speech 2016-04-27 no assertion criteria provided research
Gene Friend Way, National Innovation Center RCV003313975 SCV004013892 likely pathogenic Autism spectrum disorder 2023-07-28 no assertion criteria provided clinical testing Missense mutation in a gene that has been linked to speech and language disorders (PMID: 21663442). This variant has been found in patients with childhood apraxia of speech (PMID: 27120335). In our study, seven children diagnosed with autism spectrum disorder carry both ZGRF1 rs61745597 and ZGRF1 rs76187047.

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