ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1181_1182del (p.Ser394fs)

dbSNP: rs1344601362
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667568 SCV000792044 likely pathogenic Infantile hypophosphatasia 2017-06-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001779046 SCV002015170 likely pathogenic Hypophosphatasia 2021-10-04 criteria provided, single submitter clinical testing Variant summary: ALPL c.1181_1182delCT (p.Ser394TyrfsX10) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251462 control chromosomes. c.1181_1182delCT has been reported in the literature as a compound heterozygous genotype in at-least one individual affected with Hypophosphatasia and has been subsequently cited by others (example, Wenkert_2011, Whyte_2015, Michigami_2020). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002499160 SCV002809667 likely pathogenic Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2022-04-23 criteria provided, single submitter clinical testing

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