ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg) (rs794728126)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181332 SCV000233629 uncertain significance not provided 2012-10-03 criteria provided, single submitter clinical testing p.Thr1930Arg (ACA>AGA): c.5789 C>G in exon 24 of the DSP gene (NM_004415.2). The Thr1930Arg variant in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Thr1930Arg results in a non-conservative amino acid substitution of a neutral Threonine with a positively charged Arginine at a position that is not well conserved across species. As a result, in silico analysis predicts Thr1930Arg has a benign effect on the protein structure/function. In addition, no missense mutations have been reported in this region of the DSP gene to date, indicating this region of the protein may tolerate change (Van der Zwaag P et al., 2009). However, the NHLBI ESP Exome Variant Server reports Thr1930Arg was not observed in approximately 6000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. With the clinical and molecular information available at this time, we cannot definitively determine if Thr1930Arg is a disease-causing mutation or a rare benign variant. The variant is found in ARVC panel(s).

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