ClinVar Miner

Submissions for variant NM_000254.2(MTR):c.3613G>T (p.Glu1205Ter) (rs121913581)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000015357 SCV000813750 pathogenic METHYLCOBALAMIN DEFICIENCY, cblG TYPE 2017-06-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1205*) in the MTR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with pathogenic variant (p.Pro1173Leu) in a patient with methylcobalamin deficiency. (PMID: 12068375). Loss-of-function variants in MTR are known to be pathogenic (PMID: 9683607, 12068375). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015357 SCV000035618 pathogenic METHYLCOBALAMIN DEFICIENCY, cblG TYPE 2002-07-01 no assertion criteria provided literature only

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