ClinVar Miner

Submissions for variant NM_024996.5(GFM1):c.568A>C (p.Met190Leu) (rs75450876)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224632 SCV000885509 likely benign not provided 2017-08-14 criteria provided, single submitter clinical testing The p.Met190Leu variant (rs75450876; ClinVar variation ID: 137465) has not been reported in the medical literature in association with disease. It is found with an allele frequency in African populations of 1.8% (423/24,024 alleles) in the Genome Aggregation Database. The methionine at codon 190 is moderately conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Based on available information, this variant is considered to be likely benign.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224632 SCV000281196 likely benign not provided 2015-06-04 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000125226 SCV000168667 benign not specified 2013-01-08 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 RCV000368039 SCV000441854 uncertain significance Combined oxidative phosphorylation deficiency 2016-06-14 criteria provided, single submitter clinical testing

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