ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.386G>A (p.Arg129Gln) (rs748704459)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169582 SCV000221087 likely pathogenic GNE myopathy 2015-01-26 criteria provided, single submitter literature only
Invitae RCV000169582 SCV000638335 pathogenic GNE myopathy 2017-05-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 160 of the GNE protein (p.Arg160Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs748704459, ExAC 0.001%). This variant has been reported in the compound heterozygous state in multiple individuals affected with GNE myopathy/distal myopathy with rimmed vacuoles (PMID: 15136692, 16372135, 23127962, 24695763, 22507750). This variant is also known as p.Arg129Gln in the literature. ClinVar contains an entry for this variant (Variation ID: 189156). 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 disruptive, but these predictions have not been confirmed by published functional studies. For these reasons, this variant has been classified as Pathogenic.

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