ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.1088G>A (p.Trp363Ter) (rs1554929301)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598911 SCV000710554 likely pathogenic not provided 2018-02-02 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the ANO5 gene. The W363X variant is not observed in large population cohorts (Lek et al., 2016). The W363X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this pathogenic variant has not been reported previously to our knowledge, other nonsense variants in the ANO5 gene have been reported in the Human Gene Mutation Database in association with ANO5-related disorders (Stenson et al., 2014). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Invitae RCV000800226 SCV000939926 pathogenic Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2018-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp363*) 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 not been reported in the literature in individuals with ANO5-related disease. ClinVar contains an entry for this variant (Variation ID: 504242). 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.

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