ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.2687T>G (p.Leu896Arg)

gnomAD frequency: 0.00052  dbSNP: rs149649831
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001555816 SCV001777286 uncertain significance not provided 2020-12-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Invitae RCV002570705 SCV003282002 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 896 of the DSE protein (p.Leu896Arg). This variant is present in population databases (rs149649831, gnomAD 0.2%). 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: 1193415). 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: "Benign"; 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.

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