ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.178G>C (p.Asp60His) (rs6662272)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000126792 SCV000604241 benign not specified 2017-05-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224616 SCV000280733 benign not provided 2015-06-04 criteria provided, single submitter clinical testing
GeneDx RCV000126792 SCV000170315 benign not specified 2013-08-06 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 Clinical Services Laboratory,Illumina RCV000362925 SCV000357917 likely benign Disorders of Intracellular Cobalamin Metabolism 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000126792 SCV000919669 benign not specified 2017-12-07 criteria provided, single submitter clinical testing Variant summary: The MMACHC c.178G>C (p.Asp60His) variant involves the alteration of a conserved nucleotide. 3/3 in silico tools predict a damaging outcome for this variant (SNPsandGO and MutationTaster not captured due to low reliability index). This variant was found in 2372/277122 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.091049 (2185/23998, including 96 homozygotes). This frequency is about 30 times the estimated maximal expected allele frequency of a pathogenic MMACHC variant (0.0030542), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000541661 SCV000640282 benign Methylmalonic acidemia with homocystinuria 2017-12-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000126792 SCV000312559 benign not specified 2016-04-15 criteria provided, single submitter clinical testing

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