ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.202A>G (p.Asn68Asp) (rs1057518583)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413837 SCV000492360 uncertain significance not specified 2016-12-08 criteria provided, single submitter clinical testing The N68D variant of uncertain significance in the DSG2 gene has not been published as a pathogenic variant, nor hasit been reported as a benign variant to our knowledge. N68D variant was not observed in approximately 6,000individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, nor was it observedin the Exome Aggregation Consortium (ExAC), indicating it is not a common benign variant in these populations.The N68D variant is a semi-conservative amino acid substitution, which may impact secondary protein structure asthese residues differ in some properties. Furthermore, this substitution occurs at a position that is conserved acrossspecies, and in silico analysis predicts this variant is probably damaging to the protein structure/function.Based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. This result cannot be interpreted for diagnosis or used forfamily member screening at this time.

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