ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala)

dbSNP: rs972140495
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053830 SCV001218112 uncertain significance Methylmalonic acidemia with homocystinuria, type cblJ 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 14 of the ABCD4 protein (p.Pro14Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ABCD4-related conditions. 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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