ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.722T>G (p.Ile241Ser)

gnomAD frequency: 0.00001  dbSNP: rs759945787
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667485 SCV000791941 likely pathogenic GNE myopathy 2017-06-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733198 SCV000861233 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001390785 SCV001592628 pathogenic GNE myopathy; Sialuria 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 272 of the GNE protein (p.Ile272Ser). This variant is present in population databases (rs759945787, gnomAD 0.006%). This missense change has been observed in individual(s) with rimmed vacuolar distal myopathy (PMID: 15834044, 17098358). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is also known as Ile241Ser. ClinVar contains an entry for this variant (Variation ID: 552257). 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. For these reasons, this variant has been classified as Pathogenic.

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