ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)

gnomAD frequency: 0.00002  dbSNP: rs372467697
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816087 SCV000956577 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-07-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001182744 SCV001348302 uncertain significance Cardiomyopathy 2023-01-27 criteria provided, single submitter clinical testing This missense variant replaces arginine with tryptophan at codon 606 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 dilated cardiomyopathy (PMID: 31514951). This variant has been identified in 6/251290 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.
Ambry Genetics RCV002406857 SCV002713066 uncertain significance Cardiovascular phenotype 2023-02-17 criteria provided, single submitter clinical testing The p.R606W variant (also known as c.1816C>T), located in coding exon 14 of the DSP gene, results from a C to T substitution at nucleotide position 1816. The arginine at codon 606 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration has been reported in a dilated cardiomyopathy (DCM) cohort; however, clinical details were limited (Gigli M et al. J Am Coll Cardiol, 2019 Sep;74:1480-1490). This amino acid position is well 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.
Fulgent Genetics, Fulgent Genetics RCV002478898 SCV002779132 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 2021-09-04 criteria provided, single submitter clinical testing

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