ClinVar Miner

Submissions for variant NM_001346754.2(PIGW):c.281T>A (p.Leu94Ter)

gnomAD frequency: 0.00004  dbSNP: rs770634248
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Total submissions: 3
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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 RCV000514462 SCV000610228 likely pathogenic not provided 2017-03-20 criteria provided, single submitter clinical testing
Invitae RCV001857868 SCV002215324 uncertain significance Hyperphosphatasia with intellectual disability syndrome 5 2021-11-19 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 445649). This variant has not been reported in the literature in individuals affected with PIGW-related conditions. This variant is present in population databases (rs770634248, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Leu94*) in the PIGW gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 411 amino acid(s) of the PIGW protein.
GenomeConnect - Invitae Patient Insights Network RCV001857868 SCV004228792 not provided Hyperphosphatasia with intellectual disability syndrome 5 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 01-31-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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