ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1262T>C (p.Val421Ala)

dbSNP: rs1057516364
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410389 SCV000485532 likely pathogenic GNE myopathy 2015-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766120 SCV004569762 likely pathogenic GNE myopathy; Sialuria 2023-09-19 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. 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. ClinVar contains an entry for this variant (Variation ID: 370270). This variant is also known as V421A. This missense change has been observed in individuals with autosomal recessive distal myopathy (PMID: 15136692, 23558691, 27829678). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 452 of the GNE protein (p.Val452Ala).

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