ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.2386A>G (p.Ile796Val)

gnomAD frequency: 0.00001  dbSNP: rs774012350
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002045688 SCV002306384 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2020-12-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 796 of the DSE protein (p.Ile796Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. 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 valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DSE-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database.

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