ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.1627dup (p.Met543fs) (rs281865480)

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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 RCV000790803 SCV000339172 pathogenic not provided 2016-01-25 criteria provided, single submitter clinical testing The c.1627dupA ANO5 pathogenic variant has been reported in individuals with LGMD2L1 and is of a type expected to cause disease. 1. www.lovd.nl/ANO5 AKT 9-7-16
Invitae RCV000791428 SCV000645876 pathogenic Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2018-11-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met543Asnfs*11) in the ANO5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs768746440, ExAC 0.009%). This variant has been reported in the homozygous or compound-heterozygous state in many individuals affected with limb girdle muscular dystrophy 2L or other ANO5-related myopathies (PMID: 22194990, 25891276, 23606453, 22402862, 22742934). ClinVar contains an entry for this variant (Variation ID: 285942). Loss-of-function variants in ANO5 are known to be pathogenic in autosomal recessive ANO5-related conditions (PMID: 25891276, 23606453, 21186264). For these reasons, this variant has been classified as Pathogenic.
Broad Institute Rare Disease Group,Broad Institute RCV000327025 SCV000786703 pathogenic Limb-girdle muscular dystrophy, type 2L criteria provided, single submitter research The homozgous c.1627dupA variant was identified by our study in one individual with Limb-Girdle Muscular Dystrophy. The c.1627dupA variant is believed to be pathogenic based on numberous reports by other laboratories in the literature and databases.

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