ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.299del (p.Arg100fs) (rs1064793358)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484440 SCV000565898 pathogenic not provided 2015-03-13 criteria provided, single submitter clinical testing The c.299delG deletion in the ANO5 gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. The c.299delG variant is predicted to cause lossof normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.299delG variant was not observed in approximately 6500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variantin these populations. We interpret c.299delG as a pathogenic variant.
Invitae RCV000812498 SCV000952813 pathogenic Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2018-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg100Lysfs*18) 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: 418672). 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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