ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8357A>T (p.Lys2786Met) (rs794728134)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181350 SCV000233649 uncertain significance not provided 2013-04-02 criteria provided, single submitter clinical testing p.Lys2786Met (AAG>ATG): c.8357 A>T in exon 24 of the DSP gene (NM_004415.2). The Lys2786Met variant in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Lys2786Met results in a non-conservative amino acid substitution of a positively charged Lysine with a non-polar Methionine at a position that is well conserved in evolution. The Lys2786Met 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. Nevertheless, no mutations in nearby codons have been reported in association with ARVC. With the clinical and molecular information available at this time, we cannot definitively determine if Lys2786Met is a disease-causing mutation or a rare benign variant. The variant is found in ARVC panel(s).

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