ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5673GAA[1] (p.Lys1892del)

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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 RCV003786332 SCV004572026 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-08-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs768845836, gnomAD 0.009%). 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. This variant has not been reported in the literature in individuals affected with DSP-related conditions. This variant, c.5676_5678del, results in the deletion of 1 amino acid(s) of the DSP protein (p.Lys1892del), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV004992819 SCV005575882 uncertain significance Cardiovascular phenotype 2024-08-01 criteria provided, single submitter clinical testing The c.5676_5678delGAA variant (also known as p.K1892del) is located in coding exon 24 of the DSP gene. This variant results from an in-frame GAA deletion at nucleotide positions 5676 to 5678. This results in the in-frame deletion of a lysine at codon 1892. This alteration has been reported in a cardiomyopathy cohort (van Waning JI et al. J Am Coll Cardiol, 2018 Feb;71:711-722; Mazzarotto F et al. Genet Med, 2021 May;23:856-864). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this variant remains unclear.
GeneDx RCV005052070 SCV005685956 uncertain significance not provided 2024-07-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35982159, 33057194)

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