ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.643G>A (p.Glu215Lys)

gnomAD frequency: 0.00005  dbSNP: rs148095061
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154707 SCV000204386 likely benign not specified 2020-08-06 criteria provided, single submitter clinical testing The p.Glu215Lys variant in DSP is classified as likely benign because it has been identified in 0.05% (6/10366) of Ashkenazi Jewish and 0.02% (7/35438) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BS1.
Invitae RCV000466856 SCV000543239 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776301 SCV000911602 uncertain significance Cardiomyopathy 2023-05-12 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with lysine at codon 215 of the DSP protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, 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 and in another individual affected with idiopathic ventricular tachycardia (PMID: 32880476, 33552729). This variant has been identified in 19/282798 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.
GeneDx RCV001576627 SCV001803856 uncertain significance not provided 2021-06-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar (ClinVar Variant ID# 178024; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 32880476, 27535533)

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