Submissions for variant NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys) (rs1556026033)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000521636	SCV000618138	likely pathogenic	not provided	2017-10-24	criteria provided, single submitter	clinical testing	The Y634C has been published as a variant identified in a patient belonging to a cohort diagnosed with a non-specific skeletal dysplasia (Bae et al., 2015). The variant has also been observed at GeneDx to occur apparently de novo in an affected patient. The variant is not observed in large population cohorts (Lek et al., 2016). The Y346C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant in this residue (Y346D) has been reported in the Human Gene Mutation Database in association with hypophosphatemic rickets (Stenson et al., 2014). In summary, we consider this variant to be likely pathogenic.
Mendelics	RCV000990519	SCV001141525	likely pathogenic	Familial X-linked hypophosphatemic vitamin D refractory rickets	2019-05-28	criteria provided, single submitter	clinical testing

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