ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.1897G>A (p.Val633Met) (rs550208733)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522074 SCV000618682 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DSE gene. The V633M variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 110/16512 (0.7%) alleles from individuals of South Asian ancestry, including one homozygous individual, in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016; Exome Variant Server). The V633M 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 only conserved in mammals. Finally, in silico analysis suggests that this variant likely does not alter the protein structure/function.
Invitae RCV000651851 SCV000773707 likely benign Ehlers-Danlos syndrome, musculocontractural type 2 2017-12-04 criteria provided, single submitter clinical testing

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