ClinVar Miner

Submissions for variant NM_004407.4(DMP1):c.979C>T (p.Gln327Ter)

dbSNP: rs899142959
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000609230 SCV000713354 likely pathogenic Hypophosphatemic rickets 2017-07-27 criteria provided, single submitter clinical testing The p.Gln327X (NM_004407.3 c.979C>T) variant in DMP1 has not been previously rep orted in individuals with hereditary hypophosphatemic rickets and was absent fro m large population studies. This nonsense variant leads to a premature terminati on codon at position 327, which is predicted to lead to a truncated or absent pr otein. Biallelic loss of function of the DMP1 gene has been associated with here ditary hypophosphatemic rickets. In summary, although additional studies are req uired to fully establish a null effect on the protein, the p.Gln327X variant in the DMP1 gene is likely pathogenic for hereditary hypophosphatemic rickets in an autosomal recessive manner based on its predicted impact on the protein.

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