ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2472A>T (p.Ala824=)

dbSNP: rs1665277178
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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 RCV001233392 SCV001405983 uncertain significance Methylcobalamin deficiency type cblG 2019-08-02 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in an individual affected with cobalamin G deficiency (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 824 of the MTR mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MTR protein.

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