ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.428G>A (p.Arg143His)

gnomAD frequency: 0.00001  dbSNP: rs121918719
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000013299 SCV000788532 likely pathogenic Autosomal recessive congenital ichthyosis 1 2017-01-10 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001836706 SCV000927073 pathogenic Abnormality of the skin 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001387567 SCV001588235 pathogenic not provided 2023-03-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 143 of the TGM1 protein (p.Arg143His). This variant is present in population databases (rs121918719, gnomAD 0.004%). This missense change has been observed in individuals with autosomal recessive congenital ichthyosis (PMID: 27025581, 31168818). ClinVar contains an entry for this variant (Variation ID: 12481). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TGM1 protein function. Experimental studies have shown that this missense change affects TGM1 function (PMID: 9593710). This variant disrupts the p.Arg143 amino acid residue in TGM1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9326318, 26220141, 28403434). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000013299 SCV002763962 likely pathogenic Autosomal recessive congenital ichthyosis 1 criteria provided, single submitter clinical testing
Baylor Genetics RCV000013299 SCV004203782 pathogenic Autosomal recessive congenital ichthyosis 1 2024-01-16 criteria provided, single submitter clinical testing
OMIM RCV000013299 SCV000033546 pathogenic Autosomal recessive congenital ichthyosis 1 2006-11-01 no assertion criteria provided literature only
Natera, Inc. RCV000013299 SCV002091235 pathogenic Autosomal recessive congenital ichthyosis 1 2021-03-03 no assertion criteria provided clinical testing

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