ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.154C>T (p.Arg52Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003845356 SCV004640707 pathogenic Methylcobalamin deficiency type cblG 2023-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg52*) in the MTR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTR are known to be pathogenic (PMID: 9683607, 12068375). This variant is present in population databases (rs767201867, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MTR-related conditions. For these reasons, this variant has been classified as Pathogenic.

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