ClinVar Miner

Submissions for variant NM_001014437.3(CARS1):c.234_237delinsCAAAGGAGCTTT (p.Ser79fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003388559 SCV004100302 pathogenic Microcephaly, developmental delay, and brittle hair syndrome 2023-08-18 criteria provided, single submitter clinical testing Variant summary: CARS/CARS1 c.234_237delins12 (p.Ser79LysfsX58) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are known mechanisms for disease (PMID: 30824121). The variant was absent in 247546 control chromosomes. To our knowledge, no occurrence of c.234_237delins12 in individuals affected with Microcephaly, Developmental Delay, And Brittle Hair Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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