ClinVar Miner

Submissions for variant NM_004539.4(NARS1):c.32G>C (p.Arg11Pro)

dbSNP: rs771435243
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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 RCV001267638 SCV001593244 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); 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 downgraded to supporting).
OMIM RCV001267638 SCV001445822 pathogenic Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 2020-11-18 no assertion criteria provided literature only

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