ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.902T>C (p.Ile301Thr)

gnomAD frequency: 0.00001  dbSNP: rs1370553229
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002017842 SCV002298584 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2023-04-08 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 not expected to disrupt DSG2 protein function. ClinVar contains an entry for this variant (Variation ID: 1509358). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 301 of the DSG2 protein (p.Ile301Thr).
Ambry Genetics RCV002370707 SCV002683533 uncertain significance Cardiovascular phenotype 2020-10-13 criteria provided, single submitter clinical testing The p.I301T variant (also known as c.902T>C), located in coding exon 8 of the DSG2 gene, results from a T to C substitution at nucleotide position 902. The isoleucine at codon 301 is replaced by threonine, an amino acid with similar properties. This variant has been detected in an ichthyosis vulgaris and atopic dermatitis cohort (Taylan F et al. J Allergy Clin Immunol, 2015 Aug;136:507-9.e19). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004011130 SCV004835328 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2023-11-30 criteria provided, single submitter clinical testing

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