Submissions for variant NM_000444.6(PHEX):c.2193del (p.Phe731fs)

dbSNP: rs886041631

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000307183	SCV000330331	pathogenic	not provided	2016-03-18	criteria provided, single submitter	clinical testing	The c.2193delT pathogenic variant in the PHEX gene causes a frameshift starting with codon Phenylalanine 731, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Phe731LeufsX9. This pathogenic variant is predicted to cause loss of normal protein function through protein truncation. Specifically, the last 19 correct amino acids are lost and replaced by 8 incorrect amino acids. The c.2193delT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	RCV000505421	SCV000599614	pathogenic	Familial X-linked hypophosphatemic vitamin D refractory rickets	2017-08-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000505421	SCV002775204	likely pathogenic	Familial X-linked hypophosphatemic vitamin D refractory rickets	2022-01-19	criteria provided, single submitter	clinical testing