ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.1926_1927inv (p.Gly643Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002651068 SCV003515710 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2022-06-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 643 of the DSE protein (p.Gly643Arg). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with DSE-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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