ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)

gnomAD frequency: 0.00001  dbSNP: rs1410990711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV001254055 SCV001429962 likely pathogenic Methylmalonic acidemia with homocystinuria, type cblJ 2020-07-16 criteria provided, single submitter clinical testing
Invitae RCV001254055 SCV003470408 uncertain significance Methylmalonic acidemia with homocystinuria, type cblJ 2022-04-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 186 of the ABCD4 protein (p.Gly186Arg). 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. 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 ABCD4 protein function. ClinVar contains an entry for this variant (Variation ID: 976683). This variant has not been reported in the literature in individuals affected with ABCD4-related conditions. This variant is not present in population databases (gnomAD no frequency).

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