ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4]) (rs397516968)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038109 SCV000061775 likely benign not specified 2013-02-11 criteria provided, single submitter clinical testing Ser2843_Arg2846del in exon 24 of DSP: This variant is not expected to have clini cal significance because it has been identified in 1.45% (62/4266) of African Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). This in-frame deletion of four amino acids occurs within a section of repeating amino acids, which can result from several different DNA deletions, and is present in mammals (dolphin, opossum, and platy pus) and other evolutionarily distant species.
GeneDx RCV000766890 SCV000233675 uncertain significance not provided 2014-01-06 criteria provided, single submitter clinical testing The c.8481_8492del variant in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The variant results in an in-frame deletion of four amino acids, from Glycine 2828 to Serine 2831, denoted as p.Gly2828_Ser2831del in the DSP gene. The variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. One in-frame deletion has been reported in association with ARVC. With the clinical and molecular information available at this time, we cannot definitively determine if this variant is a disease-causing mutation or a rare benign variant.

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