ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1418G>A (p.Gly473Asp)

dbSNP: rs2148194946
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
JKU Lab, Dept of Paediatrics, Johannes Kepler University RCV001848632 SCV002106350 likely pathogenic Hypophosphatasia 2022-03-04 criteria provided, single submitter clinical testing This variant is absent from large population studies. The REVEL score is 0.97. ACMG Criteria used for classification: PM2_sup, PP2_sup, PP3_sup, PP4_mod, PM3_mod, PM5_sup (p.Gly473Ser, LP in ClinVar ).

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