ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1A>G (p.Met1Val) (rs762463914)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653495 SCV000775375 likely pathogenic 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2018-12-18 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the MCCC1 mRNA. The next in-frame methionine is located at codon 39. This variant is present in population databases (rs762463914, ExAC 0.02%). This variant has been observed as homozygous in an individual with elevated 3-methylcrotonylglycine, findings that are highly specific for 3-MCC deficiency (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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.

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