ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro)

dbSNP: rs193922456
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030354 SCV000053021 likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001852599 SCV002163141 uncertain significance not provided 2020-11-14 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PHEX protein function. This variant has been observed in individual(s) with PHEX-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 36675). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 650 of the PHEX protein (p.Leu650Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline.

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