ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln)

gnomAD frequency: 0.00004  dbSNP: rs748109826
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770239 SCV000901670 uncertain significance Cardiomyopathy 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV001046792 SCV001210708 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-11-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770239 SCV001352638 uncertain significance Cardiomyopathy 2023-03-31 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 1400 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 DSP-related disorders in the literature. This variant has been identified in 5/282572 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 RCV002332549 SCV002628594 uncertain significance Cardiovascular phenotype 2023-07-13 criteria provided, single submitter clinical testing The p.R1400Q variant (also known as c.4199G>A), located in coding exon 23 of the DSP gene, results from a G to A substitution at nucleotide position 4199. The arginine at codon 1400 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002493405 SCV002784300 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 2021-08-23 criteria provided, single submitter clinical testing

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