ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val)

dbSNP: rs2081160348
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001343346 SCV001537316 uncertain significance Methylmalonic acidemia with homocystinuria, type cblJ 2020-09-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 419 of the ABCD4 protein (p.Ile419Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. 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 not expected to disrupt ABCD4 protein function. This variant has not been reported in the literature in individuals with ABCD4-related conditions. This variant is not present in population databases (ExAC no frequency).

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