ClinVar Miner

Submissions for variant NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter)

gnomAD frequency: 0.00006  dbSNP: rs147622852
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514184 SCV000610170 likely pathogenic not provided 2017-09-05 criteria provided, single submitter clinical testing
Invitae RCV001857865 SCV002201475 uncertain significance Hyperphosphatasia with intellectual disability syndrome 5 2022-08-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg216*) in the PIGW gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 289 amino acid(s) of the PIGW protein. This variant is present in population databases (rs147622852, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with PIGW-related conditions. ClinVar contains an entry for this variant (Variation ID: 445616). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
New York Genome Center RCV001857865 SCV002506841 likely pathogenic Hyperphosphatasia with intellectual disability syndrome 5 2021-05-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV001857865 SCV003834864 likely pathogenic Hyperphosphatasia with intellectual disability syndrome 5 2021-03-12 criteria provided, single submitter clinical testing

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