ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6229C>G (p.Leu2077Val) (rs764619784)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498892 SCV000590295 uncertain significance not provided 2017-06-07 criteria provided, single submitter clinical testing The L2077V variant of uncertain significance in the DSP gene has not been published as pathogenic or been reported as benign to our knowledge. This variant was not observed at any significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L2077V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position where amino acids with similar properties to Leucine are tolerated across species, and V2077 is the wild-type allele in zebra-fish and lamprey. Nevertheless, two of three in silico analysis algorithms predict this variant is probably 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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