ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.734del (p.Leu245fs)

dbSNP: rs1734927527
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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 RCV001226344 SCV001398656 pathogenic Methylcobalamin deficiency type cblE 2019-07-28 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu245Tyrfs*23) in the MTRR gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MTRR-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MTRR are known to be pathogenic (PMID: 15714522).

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