ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter)

gnomAD frequency: 0.00001  dbSNP: rs1163620394
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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 RCV001380802 SCV001578981 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-02-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln105*) 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 0.01%). This premature translational stop signal has been observed in individual(s) with a positive newborn screening result for MCCC1-related disease (PMID: 31901042). ClinVar contains an entry for this variant (Variation ID: 1069056). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001380802 SCV004194283 likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-05-10 criteria provided, single submitter clinical testing

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