ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.568_570del (p.Asn190del)

dbSNP: rs1644529451
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196909 SCV001367543 likely pathogenic Adult hypophosphatasia 2020-01-08 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PM4.
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001732069 SCV001984863 likely pathogenic Hypophosphatasia 2020-10-13 criteria provided, single submitter clinical testing This variant has been previously reported as a compound heterozygous change in patients with hypophosphatasia (PMID:15660230). It is absent from the gnomAD population database and thus is presumed to be rare.Based on the available evidence, the c.568_570del (p.Asn190del) variant is classified as Likely Pathogenic.
Genetics and Molecular Pathology, SA Pathology RCV001732069 SCV004175427 likely pathogenic Hypophosphatasia 2021-04-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV001196909 SCV004192528 likely pathogenic Adult hypophosphatasia 2023-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558754 SCV004291723 pathogenic not provided 2023-01-05 criteria provided, single submitter clinical testing This variant, c.568_570del, results in the deletion of 1 amino acid(s) of the ALPL protein (p.Asn190del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with hypophosphatasia (PMID: 15660230, 27998428; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as N173del. ClinVar contains an entry for this variant (Variation ID: 930907). For these reasons, this variant has been classified as Pathogenic.

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