ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4226_4228del (p.Ile1409del)

dbSNP: rs746639284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001238023 SCV001410817 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-06-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 963912). This variant has been observed in individual(s) with DSP-related conditions (PMID: 29247119). This variant is present in population databases (rs746639284, gnomAD 0.02%). This variant, c.4226_4228del, results in the deletion of 1 amino acid(s) of the DSP protein (p.Ile1409del), but otherwise preserves the integrity of the reading frame.
Mayo Clinic Laboratories, Mayo Clinic RCV001509258 SCV001715871 uncertain significance not provided 2021-02-18 criteria provided, single submitter clinical testing
GeneDx RCV001509258 SCV005079885 uncertain significance not provided 2023-06-15 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Identified in a cohort of individuals included for sudden unexplained death, however, additional clinical information was not provided (Lin Y et al., 2017); This variant is associated with the following publications: (PMID: 29247119)

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