ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.338-2A>G

gnomAD frequency: 0.00001  dbSNP: rs761765455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481306 SCV000570073 likely pathogenic not provided 2016-05-09 criteria provided, single submitter clinical testing The c.338-2A>G variant in the ANO10 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice acceptor site in intron 3. It is predicted to cause abnormal gene splicing resulting in an in-frame protein product with an abnormal message. However, in the absence of RNA/functional studies, the actual effect of c.338-2A>G in this individual is unknown. The c.338-2A>G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.338-2A>G as a likely pathogenic variant.
Athena Diagnostics RCV000481306 SCV001143018 pathogenic not provided 2018-08-27 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and not found in general population data.

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