ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) (rs387906347)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000494055 SCV000339267 uncertain significance not provided 2016-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000494055 SCV000582972 likely pathogenic not provided 2018-06-28 criteria provided, single submitter clinical testing The A631T variant has been reported previously, using alternative nomenclature, in a compound heterozygous patient with hereditary inclusion-body myopathy (Broccolini et al., 2004). It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A631T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, this substitution occurs at a position that is conserved across species, and a missense variant in a nearby residue (L634F) has been reported in the Human Gene Mutation Database in association with inclusion body myopathy (Stenson et al., 2014). However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Counsyl RCV000675176 SCV000800804 likely pathogenic GNE myopathy 2018-02-23 criteria provided, single submitter clinical testing

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