ClinVar Miner

Submissions for variant NM_000254.2(MTR):c.3079C>T (p.Arg1027Trp) (rs116836001)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000186039 SCV000604297 uncertain significance not specified 2017-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000766292 SCV000239003 uncertain significance not provided 2018-04-16 criteria provided, single submitter clinical testing p.Arg1027Trp (CGG>TGG): c.3079 C>T in exon 29 in the MTR gene (NM_000254.2). The R1027W variant in the MTR gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Sequencing Project reports R1027W was observed in 33/8600 alleles (0.38%) from individuals of European American background; however, this variant was not observed in the homozygous state in any individual within this population. The R1027W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R1027W as a variant of unknown significance. This variant has been observed to be maternally and paternally inherited. The variant is found in the MTR panel.
Illumina Clinical Services Laboratory,Illumina RCV000314594 SCV000356047 uncertain significance Disorders of Intracellular Cobalamin Metabolism 2016-06-14 criteria provided, single submitter clinical testing

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