ClinVar Miner

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

dbSNP: rs1556020818
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 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 2023-02-27 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. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with hypophosphatemic rickets (PMID: 21902834, 29393334, 30682568). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 438544). Studies have shown that this variant results in activation of a cryptic splice site and introduces a premature termination codon (PMID: 29393334). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000505462 SCV002018776 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2022-03-21 criteria provided, single submitter clinical testing

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