ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.701G>A (p.Arg234His)

gnomAD frequency: 0.00015  dbSNP: rs202100813
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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 RCV001239047 SCV001411892 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-07-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 234 of the MCCC2 protein (p.Arg234His). This variant is present in population databases (rs202100813, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 964758). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002563933 SCV003676132 uncertain significance Inborn genetic diseases 2021-07-06 criteria provided, single submitter clinical testing The c.701G>A (p.R234H) alteration is located in exon 7 (coding exon 7) of the MCCC2 gene. This alteration results from a G to A substitution at nucleotide position 701, causing the arginine (R) at amino acid position 234 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001239047 SCV002084295 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2020-08-03 no assertion criteria provided clinical testing

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