ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8487_8498del (p.2827_2830SGSR[4]) (rs727504704)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155988 SCV000205700 likely benign not specified 2013-09-20 criteria provided, single submitter clinical testing Ser2843_Arg2846del in exon 24 of DSP: This variant has not been reported in ind ividuals with cardiomyopathy or in large population studies and is not expected to have clinical significance. It was previously identified in 0.7% (61/8254) of European American chromosomes by the NHLBI Exome Sequencing Project; however, t hat data is no longer available (http://evs.gs.washington.edu/EVS/). This varian t was not identified in a cohort of 350 chromosomes of mixed race with ARVC; how ever, it was idenitified in 1/854 healthy, race-matched control chromosomes (Kap plinger 2011). This in-frame deletion of four amino acids occurs within a sectio n of repeating amino acids, which can result from several different DNA deletion s, and is present in at least three mammals (dolphin, opossum, and platypus) and other evolutionarily distant species. Although this data supports that the Ser2 843_Arg2846del variant may be benign, additional studies are needed to fully ass ess its clinical significance.
Invitae RCV000556647 SCV000641356 uncertain significance Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-05-14 criteria provided, single submitter clinical testing This sequence change deletes 12 nucleotides from exon 24 of the DSP mRNA (c.8487_8498delCCGCTCGGGATC). This leads to the deletion of 4 amino acid residue(s) in the DSP protein (p.Ser2843_Arg2846del) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs779169217, ExAC 0.01%) but has not been reported in the literature in individuals with a DSP-related disease. ClinVar contains an entry for this variant (Variation ID: 179202). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, this variant is a rare in-frame deletion with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000155988 SCV000719179 likely benign not specified 2017-06-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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