ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) (rs544349961)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000723480 SCV000225391 pathogenic not provided 2014-12-08 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000174145 SCV000611279 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2017-05-18 criteria provided, single submitter clinical testing
Invitae RCV000174145 SCV000775370 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln372*) in the MCCC1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs544349961, ExAC 0.01%). This variant has been reported in combination with another MCCC1 variant in an individual affected with 3-methylcrotonyl-CoA carboxylase (MCC) deficiency (PMID: 22642865). ClinVar contains an entry for this variant (Variation ID: 193913). 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.
Natera, Inc. RCV001275510 SCV001460695 pathogenic Methylcrotonyl-CoA carboxylase deficiency 2020-09-16 no assertion criteria provided clinical testing

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