ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.12_13del (p.Leu5fs)

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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 RCV003516004 SCV004334563 pathogenic Methylcobalamin deficiency type cblG 2023-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu5Profs*16) 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 (rs752220849, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with methylcobalamin deficiency (PMID: 12068375). For these reasons, this variant has been classified as Pathogenic.

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