ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.2159C>A (p.Ala720Glu)

dbSNP: rs1057517798
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414545 SCV000490717 likely pathogenic not provided 2017-01-06 criteria provided, single submitter clinical testing The A720E variant was not observed in approximately 6,500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. The A720E variant is a non-conservative amino acid substitution, whichis likely to impact secondary protein structure as these residues differ in polarity, charge, size and/orother properties. This substitution occurs at a position that is conserved across species and in silicoanalysis predicts this variant is probably damaging to the protein structure/function. The A720Evariant has not been published as a pathogenic variant, nor has it been reported as a benign variant toour knowledge and is not located within a functional or structural domain of the protein. Therefore,this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded

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