ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.148C>T (p.Arg50Ter) (rs1168346560)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000762829 SCV000893188 pathogenic Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L; Miyoshi muscular dystrophy 3 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000545507 SCV000645874 pathogenic Limb-girdle muscular dystrophy, type 2L 2017-06-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg50*) in the ANO5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with another ANO5 variant in an individual affected with pseudo-metabolic myopathy (PMID: 23041008). Loss-of-function variants in ANO5 are known to be pathogenic (PMID: 25891276, 23606453, 21186264). For these reasons, this variant has been classified as Pathogenic.

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