ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.397C>T (p.Gln133Ter) (rs151306376)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497462 SCV000589348 pathogenic not provided 2017-06-14 criteria provided, single submitter clinical testing The Q133X nonsense variant in the PHEX gene has been reported previously in association with X-linked hypophosphatemic rickets (Ruppe et al., 2011). Q133X is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000497462 SCV001205022 pathogenic not provided 2019-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln133*) in the PHEX gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with hypophophatemic rickets (PMID: 21050253, 30682568). ClinVar contains an entry for this variant (Variation ID: 431828). Loss-of-function variants in PHEX are known to be pathogenic (PMID: 9097956, 9106524, 19219621). For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196900 SCV001367534 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2019-12-19 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM1,PM2,PP5.

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