Submissions for variant NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln)

gnomAD frequency: 0.32168  dbSNP: rs1044498

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178259	SCV000230306	benign	not specified	2015-04-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000355961	SCV000460145	benign	Arterial calcification, generalized, of infancy, 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000265863	SCV000460146	benign	Hypophosphatemic rickets, autosomal recessive, 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515718	SCV001723855	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000355961	SCV001876028	benign	Arterial calcification, generalized, of infancy, 1	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001659696	SCV001876029	benign	Hypopigmentation-punctate palmoplantar keratoderma syndrome	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000265863	SCV001876030	benign	Hypophosphatemic rickets, autosomal recessive, 2	2021-07-30	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002226648	SCV002505495	benign	Type 2 diabetes mellitus		criteria provided, single submitter	research	rs1044498 of ENPP1 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.
OMIM	RCV000014558	SCV000034810	risk factor	Insulin resistance, susceptibility to	2016-08-15	no assertion criteria provided	literature only
OMIM	RCV000033192	SCV000057037	risk factor	Obesity	2006-12-01	no assertion criteria provided	literature only
OMIM	RCV001255136	SCV001431239	risk factor	Diabetes mellitus type 2, susceptibility to	2006-12-01	no assertion criteria provided	literature only
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi	RCV001843453	SCV002102818	likely pathogenic	Hypophosphatemic rickets	2022-03-07	flagged submission	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541005	SCV004799261	benign	ENPP1-related disorder	2020-04-23	no assertion criteria provided	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).