ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.762G>A (p.Arg254=)

gnomAD frequency: 0.00001  dbSNP: rs149389595
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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 RCV001996154 SCV002280763 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-06-20 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 is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects codon 254 of the MCCC1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MCCC1 protein. It affects a nucleotide within the consensus splice site.

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