ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.384G>A (p.Met128Ile) (rs930440897)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484096 SCV000571597 uncertain significance not provided 2016-09-08 criteria provided, single submitter clinical testing The M128I variant of uncertain significance in the DSP gene has not been published as a pathogenic variant, nor hasit been reported as a benign variant to our knowledge. M128I was not observed in approximately 6,500 individuals ofEuropean and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a commonbenign variant in these populations. The M128I variant is a conservative amino acid substitution, which is not likelyto impact secondary protein structure as these residues share similar properties. However, this substitution occurs at aposition that is conserved across species. Consequently, in silico analysis is inconsistent in its predictions as towhether or not the variant is damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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