ClinVar Miner

Submissions for variant NM_175614.5(NDUFA11):c.97+5G>A

dbSNP: rs1348957889
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521728 SCV000617289 pathogenic not provided 2016-03-21 criteria provided, single submitter clinical testing The c.97+5 G>A splice site variant in the NDUFA11 gene has been previously reported in association with mitochondrial complex I deficiency in several unrelated individuals who were homozygous for c.97+5 G>A (Berger et al., 2008). This pathogenic variant reduces the quality of the splice donor site in intron 1, and results in abnormal gene splicing (Berger et al., 2008). Therefore, we interpret c.97+5 G>A to be a pathogenic variant.
OMIM RCV000000544 SCV000020693 pathogenic Mitochondrial complex 1 deficiency, nuclear type 14 2008-03-01 no assertion criteria provided literature only

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