ClinVar Miner

Submissions for variant NC_000005.10:g.(?_7877934)_(7878332_?)del

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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 RCV001033703 SCV001197010 pathogenic Methylcobalamin deficiency type cblE 2019-10-31 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 5 of the MTRR gene. This is expected to create a premature translational stop signal and result 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). For these reasons, this variant has been classified as Pathogenic.

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