ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2297G>C (p.Ser766Thr) (rs794728117)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181297 SCV000233588 uncertain significance not provided 2012-07-12 criteria provided, single submitter clinical testing p.Ser766Thr (AGC>ACC): c.2297 G>C in exon 16 of the DSP gene (NM_004415.2). The Ser766Thr variant in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Although Ser766Thr results in a conservative amino acid substitution of one neutral, polar amino acid with another, the Ser766 position is conserved in mammals and chicken. In silico analysis predicts Ser766Thr is probably damaging to the protein structure/function. Also, the NHLBI ESP Exome Variant Server reports Ser766Thr 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 may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if Ser766Thr is a disease-causing mutation or a rare benign variant. The variant is found in ARVC panel(s).

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