ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.118+1G>T (rs1131691731)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493306 SCV000582722 pathogenic not provided 2016-05-17 criteria provided, single submitter clinical testing The c.118+1 G>T splice site variant in the PHEX gene destroys the canonical splice donor site inintron 1. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that issubject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is usedfor protein translation. The c.118+1 G>T variant was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations Although this varianthas not been previously reported to our knowledge, we interpret it as pathogenic.
Institute of Human Genetics, Klinikum rechts der Isar RCV000505413 SCV000599668 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2013-11-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000493306 SCV001144923 pathogenic not provided 2019-02-08 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.

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