ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1102A>T (p.Ile368Phe) (rs794728112)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181286 SCV000233576 uncertain significance not specified 2017-03-27 criteria provided, single submitter clinical testing The I368F variant in the DSP gene has not been published as a pathogenic variant or been reported as a benign variant to our knowledge, but it has been previously identified in multiple relatives in one family referred for genetic testing at GeneDx, though limited clinical information is available. The I368F 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. Although the I368F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties, this substitution occurs at a position that is conserved across species. Consequently, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Only one definitive missense variant in a nearby residue (N375I) has been reported in the Human Gene Mutation Database in association with ARVC (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.
Ambry Genetics RCV000617850 SCV000738191 uncertain significance Cardiovascular phenotype 2017-10-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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