ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.227_228del (p.Val76fs)

dbSNP: rs1718431677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214771 SCV001386474 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-11-06 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: 944382). This premature translational stop signal has been observed in individual(s) with 3 methylcrotonyl-CoA carboxylase deficiency (PMID: 22642865). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val76Glyfs*4) 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).
Revvity Omics, Revvity RCV001214771 SCV002017230 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-11-10 criteria provided, single submitter clinical testing

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