ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.973_1146+462del

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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 RCV001226410 SCV001398723 likely pathogenic Methylcobalamin deficiency type cblE 2019-10-08 criteria provided, single submitter clinical testing This variant results in the deletion of exon 8 and part of exon 7 (c.973_1146+462del) of the MTRR gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MTRR-related conditions. Loss-of-function variants in MTRR are known to be pathogenic (PMID: 15714522). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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