ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.38C>T (p.Thr13Ile)

gnomAD frequency: 0.00001  dbSNP: rs201133637
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799976 SCV000939670 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-11-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001176100 SCV001339942 uncertain significance Cardiomyopathy 2023-10-02 criteria provided, single submitter clinical testing This missense variant replaces threonine with isoleucine at codon 13 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 25765472) and in an individual with idiopathic respiratory distress syndrome and congenital heart defects (PMID: 34298581). This variant has been identified in 9/257752 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002507384 SCV002813407 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-10-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001632 SCV004843645 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-10-23 criteria provided, single submitter clinical testing This missense variant replaces threonine with isoleucine at codon 13 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 25765472) and in an individual with idiopathic respiratory distress syndrome and congenital heart defects (PMID: 34298581). This variant has been identified in 9/257752 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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