ClinVar Miner

Submissions for variant NC_000005.9:g.(?_7885880)_(7887275_?)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 RCV004578995 SCV005062986 likely pathogenic Methylcobalamin deficiency type cblE 2023-03-08 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 954026). This variant has not been reported in the literature in individuals affected with MTRR-related conditions. 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. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MTRR are known to be pathogenic (PMID: 15714522).

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