ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1571C>T (p.Ala524Val) (rs764698870)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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
GenePathDx,Causeway Health Care Private Ltd 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.

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