ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1062G>C (p.Glu354Asp)

dbSNP: rs1553414568
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671669 SCV000796665 uncertain significance Infantile hypophosphatasia 2017-12-21 criteria provided, single submitter clinical testing
GeneDx RCV004588098 SCV005079183 uncertain significance not provided 2023-07-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25023282, 35320273, 12230456)

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