ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.645_652del (p.Asn216fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001254910 SCV001371691 likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2020-06-18 criteria provided, single submitter clinical testing The variant c.644_651del (p.Asn216Tyrfs*19) creates a shift in the reading frame which is predicted to result in a premature stop codon 19 amino acids downstream and it is likely to result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). This variant has not been reported in dbSNP, gnomAD, 1000 Genomes, NHLBI Exome Sequencing Project (ESP) or ClinVar.

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