ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2730_2731delinsCT (p.Met910_Glu911delinsIleTer)

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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 RCV003515608 SCV004259897 pathogenic Methylcobalamin deficiency type cblG 2024-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met910_Glu911delinsIle*) 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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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