ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.841A>G (p.Arg281Gly) (rs377715523)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181278 SCV000233568 uncertain significance not provided 2012-06-04 criteria provided, single submitter clinical testing p.Arg281Gly (AGG>GGG): c.841 A>G in exon 7 of the DSP gene (NM_004415.2). The Arg281Gly variant in the DSP gene has not been previously reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Arg281Gly results in a non-conservative amino acid substitution of a positively charged Arginine to a non-polar Glycine at a position that is moderately conserved in other species. However, the NHLBI ESP Exome Variant Server reports Arg281Gly was observed in 1/3737 alleles from individuals of African American background. Therefore, the clinical significance of the Arg281Gly variant in the DSP gene is currently unknown. The variant is found in ARVC panel(s).

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