ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter)

gnomAD frequency: 0.00001  dbSNP: rs1293600145
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627375 SCV000748369 likely pathogenic not provided 2018-04-27 criteria provided, single submitter clinical testing The R594X variant in the MTRR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R594X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R594X as a likely pathogenic variant.
Invitae RCV001834982 SCV002222784 pathogenic Methylcobalamin deficiency type cblE 2023-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg594*) in the MTRR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTRR are known to be pathogenic (PMID: 15714522). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 523899). This variant has not been reported in the literature in individuals affected with MTRR-related conditions. This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV003465365 SCV004196491 likely pathogenic Neural tube defects, folate-sensitive 2023-09-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834982 SCV002077218 likely pathogenic Methylcobalamin deficiency type cblE 2020-08-07 no assertion criteria provided clinical testing

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