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

dbSNP: rs1131691731

Total submissions: 3

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 Munich, Klinikum Rechts Der Isar, TU München	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.