ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.247G>T (p.Glu83Ter)

dbSNP: rs2148152544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV001823791 SCV002073355 pathogenic Hypophosphatasia 2021-10-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489891 SCV002799482 likely pathogenic Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2022-02-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552045 SCV004110303 likely pathogenic ALPL-related disorder 2023-06-12 criteria provided, single submitter clinical testing The ALPL c.247G>T variant is predicted to result in premature protein termination (p.Glu83*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in ALPL are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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