Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000625892 | SCV000746471 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2017-12-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000625892 | SCV002959819 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2022-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 80 of the MCCC1 protein (p.Ser80Asn). This variant is present in population databases (rs774565207, gnomAD 0.02%). 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: 522735). 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 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 | RCV002529767 | SCV003697661 | uncertain significance | Inborn genetic diseases | 2022-09-14 | criteria provided, single submitter | clinical testing | The c.239G>A (p.S80N) alteration is located in exon 3 (coding exon 3) of the MCCC1 gene. This alteration results from a G to A substitution at nucleotide position 239, causing the serine (S) at amino acid position 80 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV004777773 | SCV005389096 | uncertain significance | not provided | 2024-03-04 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |