ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.171_172del (p.Gly58fs)

dbSNP: rs1311374961
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531058 SCV000656954 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly58Argfs*22) 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 (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 476395). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000531058 SCV004191952 likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-01-16 criteria provided, single submitter clinical testing

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