ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1216+2T>C

dbSNP: rs1554138265
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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 RCV000644023 SCV000765710 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-08-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222578 SCV002500105 likely pathogenic Methylcrotonyl-CoA carboxylase deficiency 2022-03-04 criteria provided, single submitter clinical testing Variant summary: MCCC2 c.1216+2T>C is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Two predict the variant abolishes a 5 prime splicing donor site; one predict the variant weakens a 5 prime donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251086 control chromosomes. c.1216+2T>C has been reported in the literature in individuals affected with Methylcrotonyl-CoA Carboxylase Deficiency. These report(s) do not provide unequivocal conclusions about association of the variant with Methylcrotonyl-CoA Carboxylase Deficiency. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics RCV000644023 SCV004194340 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-09-30 criteria provided, single submitter clinical testing

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