ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.384-20A>G

gnomAD frequency: 0.00005  dbSNP: rs770917710
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489298 SCV000577843 uncertain significance not provided 2024-02-22 criteria provided, single submitter clinical testing Identified with a second variant in a patient with MCCC2-related 3-methylcrotonyl-CoA carboxylase 2 deficiency in published literature (PMID: 36822454); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 31901042, 31589614, 36822454)
Labcorp Genetics (formerly Invitae), Labcorp RCV002527038 SCV003520501 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-11-01 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the MCCC2 gene. It does not directly change the encoded amino acid sequence of the MCCC2 protein. This variant is present in population databases (rs770917710, gnomAD 0.03%). This variant has been observed in individual(s) with MCCC2-related conditions (PMID: 31901042). ClinVar contains an entry for this variant (Variation ID: 427200). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV002527038 SCV005060780 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-03-28 criteria provided, single submitter clinical testing

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