ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser)

dbSNP: rs1057517981
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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 Munich, Klinikum Rechts Der Isar, Tu München RCV000505438 SCV000599606 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2017-06-12 criteria provided, single submitter clinical testing
Invitae RCV001307376 SCV001496786 pathogenic not provided 2022-11-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Cys733 amino acid residue in PHEX. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22527485, 25839938). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PHEX protein function. ClinVar contains an entry for this variant (Variation ID: 438487). This missense change has been observed in individuals with X-linked hypophosphatemia (XLH) (PMID: 10439971; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 733 of the PHEX protein (p.Cys733Ser).

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