ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.2245T>C (p.Trp749Arg) (rs1556206403)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Klinikum rechts der Isar RCV000505453 SCV000599615 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2013-10-31 criteria provided, single submitter clinical testing
Invitae RCV001210936 SCV001382452 pathogenic not provided 2019-06-24 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 749 of the PHEX protein (p.Trp749Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with hypophosphatemia and to segregate with disease in a family (PMID: 29858904, 9768674, Invitae). ClinVar contains an entry for this variant (Variation ID: 438492). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.

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