ClinVar Miner

Submissions for variant NM_018392.5(ZGRF1):c.142C>A (p.Leu48Met)

dbSNP: rs61745597
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249454 SCV002516765 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV000755136 SCV000882958 likely pathogenic Childhood apraxia of speech 2016-04-27 no assertion criteria provided research
Gene Friend Way, National Innovation Center RCV003313976 SCV004013889 likely pathogenic Autism spectrum disorder 2023-07-28 no assertion criteria provided clinical testing Missense mutation. The ZGRF1 gene product localizes to the cell nucleus and promotes DNA repair by stimulating homologous recombination. ZGRF1 variants have been associated with 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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