ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.561C>A (p.Tyr187Ter)

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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 RCV003480004 SCV004222910 pathogenic Hypophosphatasia 2023-11-20 criteria provided, single submitter clinical testing Variant summary: ALPL c.561C>A (p.Tyr187X) results in a premature termination codon and is predicted to cause absence of the protein due to nonsense mediated decay, a commonly known mechanism for disease. The variant was absent in 251224 control chromosomes (gnomAD). To our knowledge, no occurrence of c.561C>A in individuals affected with Hypophosphatasia 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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