ClinVar Miner

Submissions for variant NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)

gnomAD frequency: 0.00088  dbSNP: rs138016359
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262914 SCV001440966 likely pathogenic Neurodevelopmental disorder 2019-01-01 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV001267636 SCV001593250 likely pathogenic Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 2021-05-10 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive. The following ACMG Tag(s) were applied: For recessive disorders, detected in trans with a pathogenic variant (PM3); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1); Well-established functional studies show a deleterious effect (PS3).
Revvity Omics, Revvity RCV001780213 SCV002017890 likely pathogenic not provided 2022-05-18 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252350 SCV002522851 likely pathogenic See cases 2021-10-14 criteria provided, single submitter clinical testing ACMG classification criteria: PS3, PM3, PP1, BP4
CeGaT Center for Human Genetics Tuebingen RCV001780213 SCV002563478 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing NARS1: PM3, PS3:Moderate, PM2:Supporting, BP4
GeneDx RCV001780213 SCV002575226 uncertain significance not provided 2022-03-22 criteria provided, single submitter clinical testing Observed in the heterozygous state along with a second variant in the NARS gene in siblings with microcephaly, seizures, intellectual disability, global developmental delay, and atrophy on brain MRI; however, familial segregation information is limited (Wang et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32788587, 33827397, 32738225)
OMIM RCV001267636 SCV001445820 pathogenic Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 2020-11-18 no assertion criteria provided literature only

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