ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.861C>A (p.Asp287Glu)

dbSNP: rs61921916
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000106337 SCV000291421 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000106337 SCV000525610 benign not provided 2016-09-29 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000106337 SCV000699930 benign not provided 2017-07-06 criteria provided, single submitter clinical testing Variant summary: The A2ML1 c.861C>A (p.Asp287Glu) 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 898/120478 control chromosomes (5 homozygotes) from ExAC, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.011976 (798/66632). This frequency is about 2994 times the estimated maximal expected allele frequency of a pathogenic A2ML1 variant (0.000004), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. In addition, multiple clinical diagnostic laboratories have classified this variant as benign. Taken together, this variant is classified as benign.
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) RCV000106337 SCV000143836 not provided not provided no assertion provided not provided
Clinical Genetics, Academic Medical Center RCV001705816 SCV001925694 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001705816 SCV001955886 benign not specified no assertion criteria provided clinical testing

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