ClinVar Miner

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

dbSNP: rs587777695
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV000143865 SCV000246129 pathogenic Acromelic frontonasal dysostosis 2014-09-23 criteria provided, single submitter research
GeneDx RCV000478201 SCV000568856 pathogenic not provided 2022-04-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25105228, 33776626, 26706854)
Ambry Genetics RCV000624254 SCV000742103 pathogenic Inborn genetic diseases 2017-04-02 criteria provided, single submitter clinical testing
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).
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000143865 SCV000803852 pathogenic Acromelic frontonasal dysostosis 2017-10-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000478201 SCV004011595 pathogenic not provided 2023-05-01 criteria provided, single submitter clinical testing ZSWIM6: PS2:Very Strong, PM2, PP2, PS3:Supporting
Daryl Scott Lab, Baylor College of Medicine RCV000143865 SCV004102654 pathogenic Acromelic frontonasal dysostosis 2023-11-10 criteria provided, single submitter clinical testing
OMIM RCV000143865 SCV000188733 pathogenic Acromelic frontonasal dysostosis 2014-08-07 no assertion criteria provided literature only
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.

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