ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup)

gnomAD frequency: 0.00001  dbSNP: rs730880373
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000320969 SCV000332534 uncertain significance not provided 2015-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000694615 SCV000823068 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-08-10 criteria provided, single submitter clinical testing This variant, c.2550_2552dup, results in the insertion of 1 amino acid(s) of the DSP protein (p.Leu851dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs772561169, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DSP-related conditions. ClinVar contains an entry for this variant (Variation ID: 180340). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Color Diagnostics, LLC DBA Color Health RCV001186231 SCV001352599 uncertain significance Cardiomyopathy 2023-03-31 criteria provided, single submitter clinical testing This variant causes an in-frame duplication of one amino acid of the DPS protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 31983221). This variant has been identified in 4/251436 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.
AiLife Diagnostics, AiLife Diagnostics RCV000320969 SCV002502053 uncertain significance not provided 2022-02-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453528 SCV002740138 uncertain significance Cardiovascular phenotype 2021-10-18 criteria provided, single submitter clinical testing The c.2550_2552dupTCT variant (also known as p.L851dup), located in coding exon 18 of the DSP gene, results from an in-frame duplication of TCT at nucleotide positions 2550 to 2552. This results in the duplication of an extra leucine residue between codons 851 and 852. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Blueprint Genetics RCV000157213 SCV000206937 uncertain significance Subvalvular aortic stenosis 2014-11-27 no assertion criteria provided clinical testing

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