Submissions for variant NM_000444.6(PHEX):c.208_212del (p.Val70fs)

dbSNP: rs1927568587

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001219349	SCV001391284	pathogenic	not provided	2023-09-15	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Val70Serfs*7) in the PHEX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHEX are known to be pathogenic (PMID: 9097956, 9106524, 19219621). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hypophosphataemic rickets or bone dysplasia (PMID: 9097956, 26377240). ClinVar contains an entry for this variant (Variation ID: 948148). For these reasons, this variant has been classified as Pathogenic.
MNM Diagnostics	RCV001271108	SCV001451952	pathogenic	Familial X-linked hypophosphatemic vitamin D refractory rickets	2019-08-25	criteria provided, single submitter	clinical testing	This is a frame-shift mutation resulting in truncated protein, whose LOF is a known mechanism of X-linked hypophosphatemic rickets (XLHR) (PVS1). This is a de novo variant in a male patient with the disease and no family history (maternity confirmed) (PS2). It is located within functional protein domain (PM1), and patient's phenotype is specific for the disease of monogenic etiology (PP4).
Fulgent Genetics, Fulgent Genetics	RCV001271108	SCV002787182	pathogenic	Familial X-linked hypophosphatemic vitamin D refractory rickets	2021-10-04	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV001271108	SCV004231760	pathogenic	Familial X-linked hypophosphatemic vitamin D refractory rickets	2024-01-12	criteria provided, single submitter	clinical testing