ClinVar Miner

Submissions for variant NM_016013.4(NDUFAF1):c.512C>T (p.Ala171Val)

gnomAD frequency: 0.00033  dbSNP: rs140515254
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330698 SCV001522454 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 11 2022-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001664831 SCV001875264 uncertain significance not provided 2021-08-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Invitae RCV001664831 SCV004262072 uncertain significance not provided 2023-07-18 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1029422). This variant has not been reported in the literature in individuals affected with NDUFAF1-related conditions. This variant is present in population databases (rs140515254, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 171 of the NDUFAF1 protein (p.Ala171Val).

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