ClinVar Miner

Submissions for variant NM_004539.4(NARS1):c.1376C>T (p.Thr459Ile)

gnomAD frequency: 0.00001  dbSNP: rs774597440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV001391248 SCV001593252 uncertain significance Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 2021-05-10 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3).
GeneDx RCV001751753 SCV002005591 uncertain significance not provided 2019-11-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); This variant is associated with the following publications: (PMID: 32738225)

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