Submissions for variant NM_004407.4(DMP1):c.1A>G (p.Met1Val)

dbSNP: rs104893834

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000255281	SCV000321557	pathogenic	not provided	2015-10-01	criteria provided, single submitter	clinical testing	The c.1 A>G pathogenic variant in the DMP1 gene has been reported previously in the homozygous state and segregated in a family with hypophatemic rickets (Feng et al., 2006). The c.1 A>G variant results in loss of a highly conserved sequence that affects appropriate signalling to the trans-Golgi network (Feng et al., 2006; Farrow et al., 2009). As this pathogenic variant changes the translation initiator Methionine codon, the resultant protein is described as p.Met1?, using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Methionine. The c.1 A>G 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. We interpret c.1 A>G as a pathogenic variant.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003483428	SCV004231800	benign	not specified	2024-01-12	criteria provided, single submitter	research
OMIM	RCV000009106	SCV000029323	pathogenic	Hypophosphatemic rickets, autosomal recessive, 1	2006-11-01	no assertion criteria provided	literature only