ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.2T>C (p.Met1Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001377562 SCV001574928 likely pathogenic 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2020-08-10 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 (rs776254500, ExAC 0.02%). Disruption of this initiator codon has been observed to be homozygous in an individual affected with 3 Methylcrotonyl-CoA carboxylase deficiency (Invitae). 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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