ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.256A>G (p.Ile86Val)

gnomAD frequency: 0.00451  dbSNP: rs61756204
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128331 SCV000171924 benign not specified 2013-05-24 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 RCV001083557 SCV000384521 benign Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2018-01-13 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000425456 SCV000510919 likely benign not provided 2017-01-26 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000425456 SCV000884620 benign not provided 2017-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083557 SCV001017788 benign Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000425456 SCV001146581 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000425456 SCV005215614 likely benign not provided criteria provided, single submitter not provided

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