ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.1520del (p.Phe507fs) (rs794727158)

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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 RCV000174967 SCV000226375 pathogenic not provided 2015-01-17 criteria provided, single submitter clinical testing
Invitae RCV000706748 SCV000835817 pathogenic Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2018-05-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe507Serfs*6) 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 observed in several individuals affected with muscular dystrophy (PMID: 22402862, 22980763, 23041008). ClinVar contains an entry for this variant (Variation ID: 194577). Loss-of-function variants in ANO5 are known to be pathogenic (PMID: 21186264, 23606453, 25891276). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Medical Genetics,National & Kapodistrian University of Athens RCV000789023 SCV000928358 pathogenic Limb-girdle muscular dystrophy, type 2L 2018-11-20 criteria provided, single submitter clinical testing PVS1, PM2, PM3

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