ClinVar Miner

Submissions for variant NM_004539.4(NARS1):c.50C>T (p.Thr17Met)

gnomAD frequency: 0.00003  dbSNP: rs148893823
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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 RCV001267640 SCV001593245 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: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Well-established functional studies show a deleterious effect (PS3).
OMIM RCV001267640 SCV001445824 pathogenic Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 2020-11-18 no assertion criteria provided literature only

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