ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter) (rs566415362)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201148 SCV000255641 pathogenic Limb-girdle muscular dystrophy, type 2L 2015-09-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000521518 SCV000331174 pathogenic not provided 2015-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000521518 SCV000617769 pathogenic not provided 2017-07-26 criteria provided, single submitter clinical testing The R404X variant in the ANO5 gene has been reported previously along with a second variant, in individuals reported to have limb-girdle muscular dystrophy type 2L and Miyoshi-like muscular dystrophy (Sarkozy et al., 2012; Wahbi et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R404X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R404X as a pathogenic variant.

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