ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.639+5G>T

gnomAD frequency: 0.00002  dbSNP: rs768630906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001378210 SCV001575731 likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-01-21 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the MCCC1 gene. It does not directly change the encoded amino acid sequence of the MCCC1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs768630906, gnomAD 0.06%). This variant has been observed in individuals with 3 methylcrotonyl-CoA carboxylase deficiency (PMID: 24078573, 25382614). ClinVar contains an entry for this variant (Variation ID: 1067048). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 25382614). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001378210 SCV002790659 likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-05-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV001378210 SCV004191949 likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-02-14 criteria provided, single submitter clinical testing

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