ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs)

gnomAD frequency: 0.00001  dbSNP: rs780304038
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730510 SCV000858252 pathogenic not provided 2017-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535156 SCV002978103 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-02-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser471Cysfs*30) in the MCCC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MCCC2 are known to be pathogenic (PMID: 11181649, 22642865). This variant is present in population databases (rs780304038, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 595072). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV002535156 SCV004194389 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-11-06 criteria provided, single submitter clinical testing

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