Submissions for variant NM_004415.4(DSP):c.479G>A (p.Arg160Gln) (rs752941845)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000414584	SCV000492358	uncertain significance	not specified	2016-12-08	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the DSP gene. The R160Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R160Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis suggests that this variant is probably damaging to the protein structure/function.
Invitae	RCV000473264	SCV000543220	uncertain significance	Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8	2018-09-05	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with glutamine at codon 160 of the DSP protein (p.Arg160Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs752941845, ExAC 0.03%) but has not been reported in the literature in individuals with a DSP-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego	RCV000852567	SCV000995268	uncertain significance	Ventricular tachycardia	2018-04-05	criteria provided, single submitter	clinical testing

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