ClinVar Miner

Submissions for variant NC_000001.10:g.(?_21835915)_(21904904_?)del

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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 RCV003994940 SCV004813607 pathogenic Hypophosphatasia 2024-02-20 criteria provided, single submitter clinical testing Variant summary: The variant involves the deletion of exons 1-12 in the ALPL gene. This deletion includes the entire coding sequence of the gene. As the exact proximal and distal breakpoints are unknown, it may extend beyond the annotated region of the gene to include other flanking genes. A presumed nomenclature of c.(?_-200)_(*763_?)del has been designated for the purposes of this classification. The variant was absent in 21692 control chromosomes (gnomAD). To our knowledge, no occurrence of c.(?_-200)_(*763_?)del in individuals affected with Hypophosphatasia and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1074110). Based on the evidence outlined above, the variant was classified as pathogenic.

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