ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.2193del (p.Phe731fs) (rs886041631)

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Total submissions: 2
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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, Klinikum rechts der Isar RCV000505421 SCV000599614 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2017-08-31 criteria provided, single submitter clinical testing

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