ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter)

dbSNP: rs150862707
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578625 SCV000680699 pathogenic not provided 2017-11-14 criteria provided, single submitter clinical testing The Y315X variant has been reported in an individual with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency who also harbored another pathogenic nonsense variant in the MCCC1 gene (Stadler et al. 2006). The Y315X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret Y315X as pathogenic.
Eurofins Ntd Llc (ga) RCV000578625 SCV000705684 pathogenic not provided 2017-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763509 SCV000894307 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000763509 SCV001377602 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr315*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 488806). This premature translational stop signal has been observed in individual(s) with 3 methylcrotonyl-CoA carboxylase deficiency (PMID: 16835865). This variant is present in population databases (rs150862707, gnomAD 0.002%).
Baylor Genetics RCV000763509 SCV004191955 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-03-26 criteria provided, single submitter clinical testing

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