ClinVar Miner

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

dbSNP: rs762463137
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541919 SCV000656949 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2025-01-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln422Alafs*10) in the MCCC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MCCC1 are known to be pathogenic (PMID: 11181649, 15359379, 22642865). This variant is present in population databases (rs762463137, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with 3-Methylcrotonyl-CoA carboxylase deficiency (PMID: 11181649, 16010683). ClinVar contains an entry for this variant (Variation ID: 476392). For these reasons, this variant has been classified as Pathogenic.
Eurofins Ntd Llc (ga) RCV000730035 SCV000857743 pathogenic not provided 2017-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000541919 SCV002797247 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-03-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000541919 SCV004191942 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-12-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000541919 SCV002079101 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-12-11 no assertion criteria provided clinical testing

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