ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) (rs762463137)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730035 SCV000857743 pathogenic not provided 2017-11-15 criteria provided, single submitter clinical testing
Invitae RCV000541919 SCV000656949 pathogenic 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2018-12-05 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 11 of the MCCC1 mRNA (c.1263dupG), causing a frameshift at codon 422. This creates a premature translational stop signal (p.Gln422Alafs*10) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MCCC1 are known to be pathogenic. This particular variant has been reported as heterozygous and as homozygous in patients affected with 3-Methylcrotonyl-CoA carboxylase deficiency (PMID: 11181649, 16010683). For these reasons, this variant has been classified as Pathogenic.

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