ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.239G>A (p.Ser80Asn)

gnomAD frequency: 0.00001  dbSNP: rs774565207
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625892 SCV000746471 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2017-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp 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.
GeneDx 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

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