ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.583dup (p.Tyr195fs)

dbSNP: rs1555834773
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485687 SCV000571082 likely pathogenic not provided 2016-08-03 criteria provided, single submitter clinical testing The c.583dupT variant in the NDUFAF5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.583dupT variant causes a frameshift starting with codon Tyrosine 195, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Tyr195LeufsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.583dupT 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. The c.583dupT variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Labcorp Genetics (formerly Invitae), Labcorp RCV000485687 SCV003448275 pathogenic not provided 2023-09-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 421779). This variant has not been reported in the literature in individuals affected with NDUFAF5-related conditions. This sequence change creates a premature translational stop signal (p.Tyr195Leufs*2) in the NDUFAF5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NDUFAF5 are known to be pathogenic (PMID: 26275793, 30473481, 32918965).
Baylor Genetics RCV003470573 SCV004192005 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 16 2023-09-14 criteria provided, single submitter clinical testing

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