ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5368A>G (p.Ile1790Val)

gnomAD frequency: 0.00001  dbSNP: rs886043883
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000354687 SCV000342496 uncertain significance not provided 2016-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855208 SCV002317160 uncertain significance Duchenne muscular dystrophy 2021-06-30 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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 DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 288396). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 1790 of the DMD protein (p.Ile1790Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.
Revvity Omics, Revvity RCV000354687 SCV003829462 uncertain significance not provided 2019-06-18 criteria provided, single submitter clinical testing

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