ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.349+1G>C (rs193922459)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030357 SCV000053024 likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
GeneDx RCV000486450 SCV000570862 likely pathogenic not provided 2016-07-26 criteria provided, single submitter clinical testing The c.349+1 G>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. While this variant destroys the canonical splice donor site in intron 3, the adjacent exon 3 remains in-frame. In the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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