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 For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 930907). This variant is also known as N173del. 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 not present in population databases (gnomAD no frequency). 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.

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