ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1241del (p.Leu414fs)

dbSNP: rs886041446
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000335413 SCV000330094 pathogenic not provided 2015-12-10 criteria provided, single submitter clinical testing The c.1241delT pathogenic variant in the PHEX gene causes a frameshift starting with codon Leucine 414, changes this amino acid to a Proline residue and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Leu414ProfsX10. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, we interpret it to be pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004545878 SCV004231768 likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2024-01-12 criteria provided, single submitter clinical testing

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