ClinVar Miner

Submissions for variant NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala)

gnomAD frequency: 0.78836  dbSNP: rs906807
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117718 SCV000170724 benign not specified 2013-01-03 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.
Illumina Laboratory Services, Illumina RCV000312272 SCV000410197 benign Mitochondrial complex I deficiency, nuclear type 1 2018-03-06 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000212 SCV001156720 benign Mitochondrial complex 1 deficiency, nuclear type 7 2023-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000676827 SCV001732943 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001000212 SCV002016119 benign Mitochondrial complex 1 deficiency, nuclear type 7 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001000212 SCV002807087 benign Mitochondrial complex 1 deficiency, nuclear type 7 2021-08-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676827 SCV005248356 benign not provided criteria provided, single submitter not provided
OMIM RCV000009621 SCV000029839 uncertain significance Parkinson disease, mitochondrial 1998-04-01 no assertion criteria provided literature only
Genetic Services Laboratory, University of Chicago RCV000117718 SCV000151965 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic RCV000676827 SCV000802637 benign not provided 2016-02-19 no assertion criteria provided clinical testing

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