ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.2924G>A (p.Arg975Gln) (rs767325003)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526504 SCV000645861 uncertain significance Dilated cardiomyopathy 1W 2018-07-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 975 of the VCL protein (p.Arg975Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs767325003, ExAC 0.03%) but has not been reported in the literature in individuals with a VCL-related disease. ClinVar contains an entry for this variant (Variation ID: 191002). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare missense change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171177 SCV000221374 likely benign not specified 2016-09-28 no assertion criteria provided research

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