ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.215C>T (p.Thr72Met)

gnomAD frequency: 0.00004  dbSNP: rs201564300
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548411 SCV001768316 uncertain significance not provided 2020-10-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Invitae RCV002568972 SCV003504252 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2022-03-18 criteria provided, single submitter clinical testing 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. 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"). ClinVar contains an entry for this variant (Variation ID: 1188576). This variant has not been reported in the literature in individuals affected with DSE-related conditions. This variant is present in population databases (rs201564300, gnomAD 0.05%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 72 of the DSE protein (p.Thr72Met).

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