ClinVar Miner

Submissions for variant NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) (rs587777695)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624254 SCV000742103 pathogenic Inborn genetic diseases 2017-04-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000143865 SCV000803852 pathogenic Acromelic frontonasal dysostosis 2017-10-11 criteria provided, single submitter clinical testing
GeneDx RCV000478201 SCV000568856 pathogenic not provided 2017-10-31 criteria provided, single submitter clinical testing The R1163W variant in the ZSWIM6 gene has been reported previously in association with acromelic frontonasal dysostosis (Smith et al., 2014). The R1163W variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1163W variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R1163W as a pathogenic variant
GenomeConnect, ClinGen RCV000143865 SCV000986913 not provided Acromelic frontonasal dysostosis no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 09/20/2018 by GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
OMIM RCV000143865 SCV000188733 pathogenic Acromelic frontonasal dysostosis 2014-08-07 no assertion criteria provided literature only
SIB Swiss Institute of Bioinformatics RCV000143865 SCV000803459 likely pathogenic Acromelic frontonasal dysostosis 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Acromelic frontonasal dysostosis, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: PM6 => Assumed de novo, but without confirmation of paternity and maternity (PMID:25105228). PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS4-Moderate => Observed in multiple unrelated patients. (PMID:25105228,26706854).
University of Washington Center for Mendelian Genomics,University of Washington RCV000143865 SCV000246129 pathogenic Acromelic frontonasal dysostosis 2014-09-23 criteria provided, single submitter research

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