ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.1425dup (p.Tyr476fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003486527 SCV004241481 pathogenic Cobalamin C disease 2023-12-14 criteria provided, single submitter clinical testing Variant summary: ABCD4 c.1425dupA (p.Tyr476IlefsX15) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant allele was found at a frequency of 4e-06 in 250638 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1425dupA in individuals affected with Methylmalonic Acidemia With Homocystinuria and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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