ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.318G>C (p.Gln106His)

dbSNP: rs1553412268
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669326 SCV000794070 uncertain significance Infantile hypophosphatasia 2017-09-13 criteria provided, single submitter clinical testing
Invitae RCV001300265 SCV001489402 pathogenic not provided 2024-01-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 106 of the ALPL protein (p.Gln106His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hypophosphatasia (PMID: 20049532, 28401263; Invitae). ClinVar contains an entry for this variant (Variation ID: 553805). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ALPL protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV001730705 SCV001981522 likely pathogenic Hypophosphatasia 2021-08-16 criteria provided, single submitter clinical testing

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