ClinVar Miner

Submissions for variant NM_014908.4(DOLK):c.839G>A (p.Arg280His)

gnomAD frequency: 0.00004  dbSNP: rs779503646
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232727 SCV001405295 uncertain significance DK1-congenital disorder of glycosylation 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 280 of the DOLK protein (p.Arg280His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs779503646, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with DOLK-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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