ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg) (rs863223405)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000201247 SCV001429633 likely pathogenic Autosomal recessive congenital ichthyosis 1 2020-05-20 criteria provided, single submitter clinical testing A homozygous missense variation in exon 9 of the TGM1 gene that results in the amino acid substitution of Arginine for Tryptophan at codon 455 was detected. The observed variant c.1363T>C (p.Trp455Arg) has not been reported in the 1000 genomes and ExAC databases. The observed variation lies in the transglutaminase-like superfamily domain of the TGM1 protein and has previously been reported in patients affected with congenital ichthyosis (Ullah, Rahim et al. 2016). The in silico prediction of the variant are probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as likely pathogenic.
Department of Molecular and Human Genetics, Baylor College of Medicine RCV000201247 SCV000249618 pathogenic Autosomal recessive congenital ichthyosis 1 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000755137 SCV000882959 pathogenic Ichthyosis (disease) 2015-11-17 no assertion criteria provided research

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