ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1714G>C (p.Val572Leu)

gnomAD frequency: 0.00002  dbSNP: rs121908632
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724160 SCV000700730 pathogenic not provided 2016-11-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000006404 SCV001193923 pathogenic GNE myopathy 2019-12-09 criteria provided, single submitter clinical testing NM_005476.5(GNE):c.1714G>C(V572L) is classified as pathogenic in the context of GNE myopathy. Sources cited for classification include the following: PMID 16372135, 12325084, 2473753, 17164266 and 14707127. Classification of NM_005476.5(GNE):c.1714G>C(V572L) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
Labcorp Genetics (formerly Invitae), Labcorp RCV001217981 SCV001389845 pathogenic GNE myopathy; Sialuria 2023-10-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 603 of the GNE protein (p.Val603Leu). This variant is present in population databases (rs121908632, gnomAD 0.02%). This missense change has been observed in individuals with autosomal recessive distal myopathy with rimmed vacuoles (DMRV) (PMID: 11916006, 12177386, 12325084, 12913203, 16503389, 18383535, 25257349, 26161358, 27363342, 27829678). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6033). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GNE protein function. Experimental studies have shown that this missense change affects GNE function (PMID: 14707127). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000724160 SCV002024866 pathogenic not provided 2023-02-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000006404 SCV004199378 pathogenic GNE myopathy 2024-01-03 criteria provided, single submitter clinical testing
OMIM RCV000006404 SCV000026587 pathogenic GNE myopathy 2006-01-01 no assertion criteria provided literature only
GeneReviews RCV000006404 SCV000058061 not provided GNE myopathy no assertion provided literature only
Natera, Inc. RCV000006404 SCV002075632 pathogenic GNE myopathy 2021-08-04 no assertion criteria provided clinical testing

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