ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.987_988del (p.His329fs) (rs1553856095)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527269 SCV000656965 pathogenic 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2017-02-06 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 10 of the MCCC1 mRNA (c.987_988delTA), causing a frameshift at codon 329. This creates a premature translational stop signal (p.His329Glnfs*19) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MCCC1 are known to be pathogenic (PMID: 16010683). For these reasons, this variant has been classified as Pathogenic.

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