ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.619G>C (p.Gly207Arg)

dbSNP: rs11047499
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000106336 SCV000556876 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000106336 SCV000699929 benign not provided 2017-07-06 criteria provided, single submitter clinical testing Variant summary: The A2ML1 c.619G>C (p.Gly207Arg) variant involves the alteration of a non-conserved nucleotide. 2/3 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 956/120716 control chromosomes (44 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.088193 (865/9808). This frequency is about 22048 times the estimated maximal expected allele frequency of a pathogenic A2ML1 variant (0.000004), thus it is a common benign polymorphism found primarily in the populations of African origin. In addition, one clinical diagnostic laboratory (via ClinVar) has classified this variant as benign. Taken together, this variant is classified as benign.
GeneDx RCV000469664 SCV000714142 benign not specified 2016-12-22 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.
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) RCV000106336 SCV000143835 not provided not provided no assertion provided not provided
Clinical Genetics, Academic Medical Center RCV000469664 SCV001917707 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000469664 SCV001954286 benign not specified no assertion criteria provided clinical testing

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