ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro)

dbSNP: rs119103215
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000002009 SCV003525390 likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-08-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1932). This missense change has been observed in individual(s) with 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency (PMID: 11181649). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 437 of the MCCC1 protein (p.Leu437Pro). Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on MCCC1 function (PMID: 11181649, 15359379, 15868465). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MCCC1 protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000002009 SCV000022167 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2001-02-01 no assertion criteria provided literature only

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