ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1012C>T (p.Leu338Phe) (rs774852168)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181284 SCV000233574 uncertain significance not provided 2013-04-18 criteria provided, single submitter clinical testing p.Leu338Phe (CTC>TTC): c.1012 C>T in exon 8 of the DSP gene (NM_004415.2). The Leu338Phe variant in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Leu338Phe results in a semi-conservative amino acid substitution of non-polar Leucine with a larger, non-polar Phenylalanine at a position that is conserved across species. In silico analysis predicts Leu338Phe is probably damaging to the protein structure/function. The Leu338Phe 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 Leu338Phe is a disease-causing mutation or a rare benign variant. The variant is found in ARVC panel(s).

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