ClinVar Miner

Submissions for variant NM_006295.3(VARS1):c.3622C>T (p.Arg1208Ter)

gnomAD frequency: 0.00001  dbSNP: rs776596987
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Total submissions: 2
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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 RCV001095657 SCV001251413 likely pathogenic Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 2019-10-01 criteria provided, single submitter clinical testing The variant was confirmed as compound heterozygous with a variant of uncertain significance (NM_006295.2: c.1014G>T).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001095657 SCV004122076 pathogenic Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 2023-10-24 criteria provided, single submitter clinical testing Variant summary: VARS1 c.3622C>T (p.Arg1208X) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant allele was found at a frequency of 2.1e-05 in 243740 control chromosomes (gnomAD). c.3622C>T has been reported in the literature in an individual(s) affected with a Neurodevelopmental Disorder (Halfmeyer_2022). The following publication has been ascertained in the context of this evaluation (PMID: 36672771). One submitter has cited a clinical-significance assessment for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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