ClinVar Miner

Submissions for variant NM_014908.3(DOLK):c.1438A>G (p.Ile480Val) (rs144209926)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000431298 SCV000511615 uncertain significance not provided 2016-06-30 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000808929 SCV000949062 uncertain significance Congenital disorder of glycosylation type 1M 2019-10-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 480 of the DOLK protein (p.Ile480Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs144209926, ExAC 0.03%). This variant has not been reported in the literature in individuals with DOLK-related disease. ClinVar contains an entry for this variant (Variation ID: 377266). 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. 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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