ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.1096G>A (p.Glu366Lys)

gnomAD frequency: 0.00002  dbSNP: rs771010169
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001940364 SCV002191954 uncertain significance Methylmalonic acidemia with homocystinuria, type cblJ 2022-03-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 366 of the ABCD4 protein (p.Glu366Lys). This variant is present in population databases (rs771010169, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ABCD4-related conditions. 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 not expected to disrupt ABCD4 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.

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