ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) (rs755099716)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181305 SCV000233598 uncertain significance not provided 2012-08-09 criteria provided, single submitter clinical testing p.Thr922Ile (ACA>ATA): c.2765 C>T in exon 19 of the DSP gene (NM_004415.2). The Thr922Ile variant in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Thr922Ile results in a semi-conservative amino acid substitution of a polar Threonine residue with a non-polar Isoleucine residue at a position that is conserved across species. The NHLBI ESP Exome Variant Server reports Thr922Ile was not observed in approximately 6,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Nevertheless, no mutations in nearby codons have been reported in association with ARVC indicating this region of the protein is tolerant of change. Also, in silico analysis predicts Thr922Ile is benign to the protein structure/function. With the clinical and molecular information available at this time, we cannot definitively determine if Thr922Ile is a disease-causing mutation or a rare benign variant. The variant is found in ARVC panel(s).

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