ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1571C>T (p.Ala524Val)

dbSNP: rs764698870
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenePathDx, GenePath diagnostics RCV000487445 SCV000574534 pathogenic GNE myopathy 2017-03-01 criteria provided, single submitter clinical testing 34 years old female, no family history, started having frequent falls at the age of 29 years of age followed by progressively increasing weakness of lower limbs. The weakness appears to be more in distal areas than proximal limb and lower limb is affected more than upper limbs. Next generation DNA sequencing of peripheral blood sample has revealed the presence of two pathogenic variants c.2086 G>A and c.1571C>T in the GNE gene consistent with the diagnosis of Nonaka myopathy or inclusion body myopathy 2/ distal myopathy with rimmed vacuoles.
Counsyl RCV000487445 SCV000797188 pathogenic GNE myopathy 2018-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763619 SCV000894473 likely pathogenic GNE myopathy; Sialuria 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000763619 SCV001206035 pathogenic GNE myopathy; Sialuria 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 555 of the GNE protein (p.Ala555Val). This variant is present in population databases (rs764698870, gnomAD 0.02%). This missense change has been observed in individuals with autosomal recessive GNE myopathy (PMID: 14707127, 16810679, 23549799). It has also been observed to segregate with disease in related individuals. This variant is also known as A524V, 1571C>T, and 1622C>T. ClinVar contains an entry for this variant (Variation ID: 424619). 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. Experimental studies have shown that this missense change affects GNE function (PMID: 14707127). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003139687 SCV003824597 pathogenic not provided 2023-03-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000487445 SCV004199376 pathogenic GNE myopathy 2023-10-31 criteria provided, single submitter clinical testing
GeneReviews RCV000487445 SCV001364092 not provided GNE myopathy no assertion provided literature only
Natera, Inc. RCV000487445 SCV002075641 pathogenic GNE myopathy 2020-07-07 no assertion criteria provided clinical testing

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