Submissions for variant NM_003052.5(SLC34A1):c.774T>C (p.His258=)

gnomAD frequency: 0.24542  dbSNP: rs5030873

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000333130	SCV000456675	benign	Hypophosphatemic nephrolithiasis/osteoporosis 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV001195554	SCV001365944	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.His258His in exon 7 of SLC34A1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 41.15% (2715/6598) of Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs5030873).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519845	SCV001728791	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001519845	SCV001884923	benign	not provided	2018-10-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808774	SCV002056385	benign	Fanconi renotubular syndrome 2	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808775	SCV002056396	benign	Hypercalcemia, infantile, 2	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000333130	SCV002056407	benign	Hypophosphatemic nephrolithiasis/osteoporosis 1	2021-07-15	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001195554	SCV001741367	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001195554	SCV001953294	benign	not specified		no assertion criteria provided	clinical testing