ClinVar Miner

Submissions for variant NM_001098.3(ACO2):c.220C>G (p.Leu74Val) (rs141772938)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676884 SCV000251043 uncertain significance not provided 2018-10-10 criteria provided, single submitter clinical testing The L74V variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The L74Vvariant was observed at a frequency of 0.5%, 47/8598 alleles, in individuals of European ancestry by theNHLBI Exome Sequencing Project, with the reported genotypes indicating that all individuals wereheterozygous for this variant. The L74V variant was also observed in 2/196 alleles from individuals ofItalian ancestry and in 2/178 alleles in individuals of British ancestry by the 1000 Genomes Project (Kerseyet al., 2010). The L74V variant is a conservative amino acid substitution, which is not likely to impactsecondary protein structure as these residues share similar properties. This substitution occurs at a positionthat is conserved across species. In silico analysis predicts this variant is probably damaging to the proteinstructure/function. Therefore, based on the currently available information, it is unclear whether this variantis a pathogenic or a rare benign variant
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000676884 SCV000701819 uncertain significance not provided 2016-10-12 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000676884 SCV000892333 likely pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764399 SCV000895453 uncertain significance Infantile cerebellar-retinal degeneration; Optic atrophy 9 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000676884 SCV001025827 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000990458 SCV001141450 likely benign Infantile cerebellar-retinal degeneration 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000169730 SCV000221272 pathogenic Optic atrophy 9 2014-12-01 no assertion criteria provided literature only
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676884 SCV000802698 uncertain significance not provided 2016-02-26 no assertion criteria provided clinical testing

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