ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1268-2A>G

dbSNP: rs2108474093
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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 RCV001385129 SCV001584884 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-02-22 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with 3 methylcrotonyl-CoA carboxylase deficiency (PMID: 16835865). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 11 of the MCCC1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. ClinVar contains an entry for this variant (Variation ID: 1072424). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exons 12-13, but is expected to preserve the integrity of the reading-frame (PMID: 16835865).
Baylor Genetics RCV001385129 SCV005060778 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-11-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001385129 SCV002079100 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-08-11 no assertion criteria provided clinical testing

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