ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.591A>G (p.Gln197=) (rs1556020818)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Klinikum rechts der Isar RCV000505462 SCV000599678 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2013-11-06 criteria provided, single submitter clinical testing
Mendelics RCV000505462 SCV001141517 likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001051990 SCV001216175 pathogenic not provided 2019-03-29 criteria provided, single submitter clinical testing This sequence change affects codon 197 of the PHEX mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PHEX protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with hypophosphatemic rickets and to segregate with disease in a second affected family (PMID: 21902834, 29393334). ClinVar contains an entry for this variant (Variation ID: 438544). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 29393334). For these reasons, this variant has been classified as Pathogenic.

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