ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.2005_2016del (p.Glu669_Leu672del)

dbSNP: rs1602412679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990543 SCV001141554 likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001342525 SCV001536460 uncertain significance not provided 2020-10-24 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with hypophosphatemia (Invitae). ClinVar contains an entry for this variant (Variation ID: 803772). This variant is not present in population databases (ExAC no frequency). This variant, c.2005_2016del, results in the deletion of 4 amino acid(s) of the PHEX protein (p.Glu669_Leu672del), but otherwise preserves the integrity of the reading frame.

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