ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1771G>A (p.Ala591Thr)

gnomAD frequency: 0.00001  dbSNP: rs752286512
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003465337 SCV004191656 likely pathogenic GNE myopathy 2023-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767363 SCV004608706 pathogenic GNE myopathy; Sialuria 2023-01-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Ala622 amino acid residue in GNE. Other variant(s) that disrupt this residue have been observed in individuals with GNE-related conditions (PMID: 30390020), which suggests that this may be a clinically significant amino acid residue. 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. ClinVar contains an entry for this variant (Variation ID: 498575). This variant is also known as p.A591T. This missense change has been observed in individual(s) with autosomal recessive GNE-related conditions (PMID: 16372135, 21868336, 30390020, 31286697). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs752286512, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 622 of the GNE protein (p.Ala622Thr).
Juno Genomics, Hangzhou Juno Genomics, Inc RCV003465337 SCV005418906 likely pathogenic GNE myopathy criteria provided, single submitter clinical testing PM2_Supporting+PP3+PM3+PP4+PP1
Eurofins Ntd Llc (ga) RCV000595256 SCV000703655 uncertain significance not provided 2016-12-06 flagged submission clinical testing

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