ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr) (rs146837138)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197548 SCV000251239 uncertain significance not provided 2018-04-06 criteria provided, single submitter clinical testing The A60T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A60T variant is observed in 54/124596 (0.04%) alleles from individuals of European background, in large population cohorts (Lek et al., 2016). The A60T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics,Fulgent Genetics RCV000765487 SCV000896782 uncertain significance Mitochondrial complex I deficiency, nuclear type 1 2018-10-31 criteria provided, single submitter clinical testing

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