ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1100C>T (p.Ser367Phe)

gnomAD frequency: 0.00001  dbSNP: rs1300239598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001976689 SCV002260828 likely pathogenic not provided 2024-12-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 367 of the ALPL protein (p.Ser367Phe). This variant is present in population databases (no rsID available, gnomAD 0.002%). This missense change has been observed in individual(s) with ALPL-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 1479264). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ALPL protein function with a positive predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276970 SCV002564816 uncertain significance Osteogenesis imperfecta 2020-02-01 criteria provided, single submitter clinical testing

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