ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.1237T>C (p.Ser413Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003075314 SCV003468885 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2021-12-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs566555871, gnomAD 0.003%). 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with DSE-related conditions. This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 413 of the DSE protein (p.Ser413Pro).

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