ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.866-2A>C

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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 RCV003516288 SCV004292005 likely pathogenic Methylcobalamin deficiency type cblG 2023-02-25 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is also known as IVS9-2A>C. Disruption of this splice site has been observed in individual(s) with homocystinuria, cblG type (PMID: 12068375). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change affects an acceptor splice site in intron 9 of the MTR 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 MTR are known to be pathogenic (PMID: 9683607, 12068375).

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