ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter)

dbSNP: rs1236464864
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641777 SCV000763425 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 534281). This premature translational stop signal has been observed in individual(s) with DSP-related conditions (PMID: 25820315, 30345701, 30700137). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1465*) in the DSP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139).
Heart Center, Academic Medical Center Amsterdam RCV000850012 SCV000992153 likely pathogenic Arrhythmogenic right ventricular dysplasia 9 2018-12-01 criteria provided, single submitter research
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV004556807 SCV005045798 pathogenic Arrhythmogenic right ventricular dysplasia 8 2023-10-26 criteria provided, single submitter clinical testing The c.4395T>G (p.Tyr1465*) variant in the DSP gene introduces a premature translation termination codon at position 1465. This variant is predicted to result in an absent or disrupted protein product. This variant has been observed in individuals with arrhythmogenic right ventricular cardiomyopathy (ARVC) and dilated cardiomyopathy (DCM) (PMID: 25820315, 30345701, 30700137). Loss-of-function variants in DSP gene are known to be pathogenic (PMID: 20716751, 24503780, 25227139). This variant is not present in the general population according to gnomAD. Therefore, the c.4395T>G (p.Tyr1465*) variant in the DSP gene has been classified as pathogenic.
All of Us Research Program, National Institutes of Health RCV004807063 SCV005428943 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-02-08 criteria provided, single submitter clinical testing The c.4395T>G (p.Tyr1465*) variant in the DSP gene introduces a premature translation termination codon at position 1465. This variant is predicted to result in an absent or disrupted protein product. This variant has been observed in individuals with arrhythmogenic right ventricular cardiomyopathy (ARVC) and dilated cardiomyopathy (DCM) (PMID: 25820315, 30345701, 30700137). Loss-of-function variants in DSP gene are known to be pathogenic (PMID: 20716751, 24503780, 25227139). This variant is not present in the general population according to gnomAD. Therefore, the c.4395T>G (p.Tyr1465*) variant in the DSP gene has been classified as pathogenic.

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