ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.1099G>A (p.Asp367Asn)

gnomAD frequency: 0.00851  dbSNP: rs117412559
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128329 SCV000171922 benign not specified 2011-11-30 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.
PreventionGenetics, part of Exact Sciences RCV000128329 SCV000309848 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000128329 SCV000338451 benign not specified 2016-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000999962 SCV000384508 benign Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 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 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 RCV000999962 SCV000605317 benign Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2023-11-11 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000128329 SCV000615521 benign not specified 2017-06-29 criteria provided, single submitter clinical testing
Invitae RCV000999962 SCV001732206 benign Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2024-02-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676872 SCV000802685 benign not provided 2017-06-13 no assertion criteria provided clinical testing

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