ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs)

dbSNP: rs1572278166
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803188 SCV000943050 pathogenic Methylcobalamin deficiency type cblG 2024-08-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu665Ilefs*13) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with methionine synthase deficiency (cblG) (internal data). ClinVar contains an entry for this variant (Variation ID: 648454). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000803188 SCV002017609 pathogenic Methylcobalamin deficiency type cblG 2019-03-06 criteria provided, single submitter clinical testing

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