ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.148C>T (p.Arg50Ter)

gnomAD frequency: 0.00001  dbSNP: rs1168346560
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545507 SCV000645874 pathogenic Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2019-10-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ANO5 are known to be pathogenic (PMID: 25891276, 23606453, 21186264). This variant has been reported in combination with another ANO5 variant in an individual affected with pseudo-metabolic myopathy (PMID: 23041008). ClinVar contains an entry for this variant (Variation ID: 468825). This variant is not present in population databases (ExAC no frequency). 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.
Fulgent Genetics, Fulgent Genetics RCV000762829 SCV000893188 pathogenic Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 2018-10-31 criteria provided, single submitter clinical testing

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