ClinVar Miner

Submissions for variant NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter)

gnomAD frequency: 0.00023  dbSNP: rs756339822
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000424141 SCV000511583 likely pathogenic not provided 2016-09-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336162 SCV001529480 pathogenic Mitochondrial complex I deficiency, nuclear type 1 2018-04-14 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000424141 SCV002558079 uncertain significance not provided 2022-07-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002524733 SCV003725864 likely pathogenic Inborn genetic diseases 2021-05-14 criteria provided, single submitter clinical testing The c.188dupA (p.Y63*) alteration, located in exon 2 (coding exon 2) of the NDUFAF3 gene, consists of a duplication of A at position 188, causing a translational frameshift with a predicted alternate stop codon after amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as likely pathogenic.
Baylor Genetics RCV003152601 SCV003841191 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 18 criteria provided, single submitter clinical testing

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