ClinVar Miner

Submissions for variant NM_004046.6(ATP5F1A):c.545G>A (p.Arg182Gln)

dbSNP: rs2144189607
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001544652 SCV001763824 pathogenic not provided 2023-07-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34954817)
Undiagnosed Diseases Network, NIH RCV002252689 SCV002523181 uncertain significance ATP5F1A-related disorder 2022-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004681220 SCV005173257 likely pathogenic Inborn genetic diseases 2024-04-18 criteria provided, single submitter clinical testing The c.545G>A (p.R182Q) alteration is located in exon 6 (coding exon 5) of the ATP5A1 gene. This alteration results from a G to A substitution at nucleotide position 545, causing the arginine (R) at amino acid position 182 to be replaced by a glutamine (Q). for autosomal dominant ATP5F1A-related mitochondrial complex V deficiency; however, its clinical significance for autosomal recessive ATP5F1A-related mitochondrial complex V deficiency is uncertain. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant and another variant at the same codon, c.545G>C (p.R182P), have been determined to be the result of a de novo mutation in multiple individuals with features consistent with ATP5F1A-related mitochondrial complex V deficiency (Zech, 2022; NCBI ClinVar; DECIPHER). Manual reference: National Center for Biotechnology Information. ClinVar; [VCV001185778.6], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV001185778.6 (accessed April 12, 2024). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic.
OMIM RCV003226477 SCV003922375 pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A 2023-05-04 no assertion criteria provided literature only

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