ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.2244_2245del (p.Trp749fs)

dbSNP: rs1057517800
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413761 SCV000490719 likely pathogenic not provided 2016-12-12 criteria provided, single submitter clinical testing The c.2244_2245delCT pathogenic variant in the PHEX gene causes a frameshift starting with last residue of the protein, codon Tryptophan 749, and changes this amino acid to a Valine residue while adding an additional 42 residues before creating a Stop codon at position 44 of the new reading frame, denoted p.Trp749ValfsX44. This variant has been observed at GeneDx in other patients diagnosed with hypophosphatemic rickets. The c.2244_2245delCT 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. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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