ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.935TGG[3] (p.Val315del)

dbSNP: rs756329108
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Total submissions: 3
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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 RCV001175580 SCV001339213 uncertain significance not specified 2021-06-28 criteria provided, single submitter clinical testing Variant summary: ALPL c.944_946delTGG (p.Val315del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant was absent in 251178 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.944_946delTGG in individuals affected with Hypophosphatasia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002483942 SCV002790137 uncertain significance Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2021-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828591 SCV002094080 uncertain significance Hypophosphatasia 2020-11-06 no assertion criteria provided clinical testing

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