ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.1086G>A (p.Ala362=)

gnomAD frequency: 0.00001  dbSNP: rs750381895
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418048 SCV000534797 uncertain significance not provided 2016-12-22 criteria provided, single submitter clinical testing The c.1086 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1086 G>A variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is not conserved. In-silico splice prediction models are not informative as to whether or not the c.1086 G>A variant affects normal gene splicing, and in the absence of RNA/functional studies, the effect of this sequence change in this individual is unknown. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001835804 SCV003264082 likely benign Methylcobalamin deficiency type cblE 2023-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835804 SCV002077205 uncertain significance Methylcobalamin deficiency type cblE 2019-11-11 no assertion criteria provided clinical testing

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