ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.2635C>T (p.Arg879Trp)

dbSNP: rs113277624
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565370 SCV001788707 uncertain significance not provided 2021-10-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV001865998 SCV002218393 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 879 of the DSE protein (p.Arg879Trp). This variant is present in population databases (rs113277624, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with DSE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1200367). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276795 SCV002565868 uncertain significance Ehlers-Danlos syndrome 2018-07-01 criteria provided, single submitter clinical testing

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