ClinVar Miner

Submissions for variant NM_004046.6(ATP5F1A):c.1176+1G>C

dbSNP: rs1131691396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493123 SCV000582042 likely pathogenic not provided 2017-05-10 criteria provided, single submitter clinical testing The c.1176+1G>C variant in the ATP5A1 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 donor site in intron 9. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1176+1G>C variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1176+1G>C as a likely pathogenic variant.
Centogene AG - the Rare Disease Company RCV001809449 SCV002059255 likely pathogenic Combined oxidative phosphorylation deficiency 22 2020-11-18 criteria provided, single submitter clinical testing

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