Submissions for variant NM_020638.3(FGF23):c.716C>T (p.Thr239Met)

gnomAD frequency: 0.11385  dbSNP: rs7955866

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000262068	SCV000378837	benign	Tumoral calcinosis, hyperphosphatemic, familial, 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.
Illumina Laboratory Services, Illumina	RCV000321863	SCV000378838	benign	Autosomal dominant hypophosphatemic rickets	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.
Athena Diagnostics	RCV000518652	SCV000613286	benign	not specified	2017-07-28	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000518652	SCV000711884	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Thr239Met in exon 3 of FGF23: This variant is not expected to have clinical si gnificance because it has been identified in 20.38% (2358/11572) of Latino chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs7955866).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511037	SCV001718213	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001511037	SCV001829983	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22419710)
Breakthrough Genomics, Breakthrough Genomics	RCV001511037	SCV005234768	benign	not provided		criteria provided, single submitter	not provided