ClinVar Miner

Submissions for variant NM_000254.2(MTR):c.-6G>C (rs183719210)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413528 SCV000492417 uncertain significance not provided 2018-04-04 criteria provided, single submitter clinical testing A variant of unknown significance has been identified in the MTR gene. The c.-6 G>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The 1000 Genomes Project Consortium reports c.-6 G>C was observed in 5/188 alleles from individuals of Colombian background. This variant is in the Kozak consensus sequence, which plays a role in the initiation of protein translation, however this substitution occurs at a position that is not conserved across species and variants in the regulatory region of the MTR gene have not previously been reported to our knowledge (Stenson et al., 2014). In the absence of functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000328980 SCV000356013 uncertain significance Disorders of Intracellular Cobalamin Metabolism 2016-06-14 criteria provided, single submitter clinical testing

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