ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln)

gnomAD frequency: 0.00004  dbSNP: rs780352053
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000383858 SCV000442298 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002520112 SCV002959880 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-09-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 208 of the MCCC1 protein (p.Arg208Gln). This variant is present in population databases (rs780352053, gnomAD 0.004%). 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: 344314). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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 RCV002520111 SCV003701562 uncertain significance Inborn genetic diseases 2022-05-18 criteria provided, single submitter clinical testing The c.623G>A (p.R208Q) alteration is located in exon 6 (coding exon 6) of the MCCC1 gene. This alteration results from a G to A substitution at nucleotide position 623, causing the arginine (R) at amino acid position 208 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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