ClinVar Miner

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

dbSNP: rs1553856095
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527269 SCV000656965 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-11-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 476402). This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His329Glnfs*19) 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).

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