ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.616G>A (p.Gly206Ser)

dbSNP: rs766266918
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593554 SCV000701513 uncertain significance not provided 2016-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001379220 SCV001576980 likely pathogenic GNE myopathy; Sialuria 2021-06-16 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). This variant has been observed in individual(s) with autosomal recessive hereditary inclusion-body myopathy (PMID: 15146476). It has also been observed to segregate with disease in related individuals. It is also known as p.G206S in literature. ClinVar contains an entry for this variant (Variation ID: 497177). This variant is present in population databases (rs766266918, ExAC 0.001%). This sequence change replaces glycine with serine at codon 237 of the GNE protein (p.Gly237Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant also falls at the last nucleotide of exon 3 of the GNE coding sequence, which is part of the consensus splice site for this exon.
Baylor Genetics RCV004568311 SCV005059604 likely pathogenic GNE myopathy 2024-03-19 criteria provided, single submitter clinical testing

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