ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.449G>A (p.Arg150Gln)

gnomAD frequency: 0.00002  dbSNP: rs587782940
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001849966 SCV002258902 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498653 SCV002790288 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 2021-09-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003531968 SCV004363265 uncertain significance Cardiomyopathy 2024-03-07 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 150 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 not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 9/282198 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.
All of Us Research Program, National Institutes of Health RCV003998154 SCV004828633 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-09-17 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 150 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 not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 9/282198 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 RCV004992013 SCV005570922 uncertain significance Cardiovascular phenotype 2024-11-29 criteria provided, single submitter clinical testing The c.449G>A (p.R150Q) alteration is located in exon 4 (coding exon 4) of the DSP gene. This alteration results from a G to A substitution at nucleotide position 449, causing the arginine (R) at amino acid position 150 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Blueprint Genetics RCV000143883 SCV000188752 uncertain significance Collapse (finding) 2013-11-08 no assertion criteria provided clinical testing

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