ClinVar Miner

Submissions for variant NM_145691.4(ATPAF2):c.511G>A (p.Val171Met)

gnomAD frequency: 0.00522  dbSNP: rs62073570
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123784 SCV000167127 benign not specified 2014-03-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000439151 SCV000511705 likely benign not provided 2016-09-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999987 SCV000883444 benign Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 2022-02-28 criteria provided, single submitter clinical testing
Invitae RCV000439151 SCV001113727 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000999987 SCV001284192 likely benign Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000439151 SCV002545890 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ATPAF2: BP4, BS2
Fulgent Genetics, Fulgent Genetics RCV000999987 SCV002808471 likely benign Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 2021-07-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915234 SCV004732202 benign ATPAF2-related condition 2023-10-13 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Mayo Clinic Laboratories, Mayo Clinic RCV000439151 SCV000802005 uncertain significance not provided 2016-02-22 no assertion criteria provided clinical testing

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