ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.852G>A (p.Met284Ile) (rs794728110)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181279 SCV000233569 uncertain significance not provided 2018-06-21 criteria provided, single submitter clinical testing p.Met284Ile (ATG>ATA): c.852 G>A in exon 7 of the DSP gene (NM_004415.2). The Met284Ile variant in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Met284Ile results in a conservative amino acid substitution of one non-polar amino acid for another at a position that is conserved in mammals and chicken. The Met284Ile variant was not observed 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. However, in silico algorithms are not consistent in their predictions but at least two concur that Met284Ile is benign to the protein structure/function. In addition, no mutations in nearby residues have been reported in association with ARVC, indicating this region of the the protein may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if Met284Ile is a disease-causing mutation or a rare benign variant. The variant is found in ARRHYTHMIA panel(s).

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