ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del)

dbSNP: rs1553414078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002525011 SCV003194760 uncertain significance not provided 2022-07-22 criteria provided, single submitter clinical testing Reported in a patient with features consistent with hypophosphatasia in published literature (Jandl et al., 2021); In-frame deletion of two amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33191482, 34673643)
Baylor Genetics RCV003464104 SCV004190614 likely pathogenic Adult hypophosphatasia 2023-06-05 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Wuerzburg RCV000515669 SCV000611832 likely pathogenic Low alkaline phosphatase no assertion criteria provided clinical testing

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