ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.2470del (p.Gln824fs) (rs770694933)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594131 SCV000701336 pathogenic not provided 2016-07-18 criteria provided, single submitter clinical testing
Invitae RCV001215385 SCV001387125 likely pathogenic Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2019-04-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the ANO5 gene (p.Gln824Asnfs*10). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 90 amino acids of the ANO5 protein. This variant is present in population databases (rs770694933, ExAC 0.002%). This variant has been observed in combination with another ANO5 variant in an individual affected with hyperCKemia (PMID: 29382405). ClinVar contains an entry for this variant (Variation ID: 289163). This variant disrupts the C-terminus of the ANO5 protein. Other variant(s) that disrupt this region (p.His841Asp) have been determined to be pathogenic (PMID:24022920, 23606453). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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