Submissions for variant NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr)

gnomAD frequency: 0.00299  dbSNP: rs8192683

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176564	SCV000228240	benign	not specified	2015-04-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000333261	SCV000460187	likely benign	Hypophosphatemic rickets, autosomal recessive, 2	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000369243	SCV000460188	likely benign	Arterial calcification, generalized, of infancy, 1	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000954668	SCV001101315	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000954668	SCV001865476	benign	not provided	2019-09-27	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002226692	SCV002505486	uncertain significance	Type 2 diabetes mellitus		criteria provided, single submitter	research	ENPP1 gene is associated with type 2 diabetes mellitus and increased insulin resistance. It is also associated with calcification of coronary artery disease, increasing the chances of macrovascular complications in diabetes. However, no sufficient evidence is found to ascertain the role of rs8192683 variant in Diabetes Mellitus yet.
PreventionGenetics, part of Exact Sciences	RCV003917639	SCV004729686	benign	ENPP1-related condition	2019-06-25	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).