ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1361del (p.His454fs)

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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 RCV003405069 SCV004121721 pathogenic Hypophosphatasia 2023-10-17 criteria provided, single submitter clinical testing Variant summary: ALPL c.1361delA (p.His454ProfsX30) results in a premature termination codon, predicted to cause a truncation of the encoded protein. Although NMD is not expected several variants downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 245200 control chromosomes. To our knowledge, no occurrence of c.1361delA 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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