ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.373A>G (p.Ile125Val)

gnomAD frequency: 0.00001  dbSNP: rs780072787
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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 RCV002542872 SCV003520847 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-08-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 125 of the MCCC1 protein (p.Ile125Val). This variant is present in population databases (rs780072787, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 989681). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MCCC1 protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV005367805 SCV006031935 uncertain significance Inborn genetic diseases 2024-12-30 criteria provided, single submitter clinical testing The c.373A>G (p.I125V) alteration is located in exon 5 (coding exon 5) of the MCCC1 gene. This alteration results from a A to G substitution at nucleotide position 373, causing the isoleucine (I) at amino acid position 125 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277563 SCV001464523 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-09-21 no assertion criteria provided clinical testing

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