Submissions for variant NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg)

gnomAD frequency: 0.00356  dbSNP: rs148509395

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180373	SCV000232788	benign	not specified	2014-11-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000180373	SCV000521200	likely benign	not specified	2016-02-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514095	SCV000610812	likely benign	not provided	2017-06-15	criteria provided, single submitter	clinical testing
Invitae	RCV000514095	SCV001005783	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001156714	SCV001318237	likely benign	Fraser syndrome 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV001258255	SCV001435169	likely benign	Usher syndrome type 2C		criteria provided, single submitter	research	The heterozygous p.Leu259Arg variant in FRAS1 has been identified in an Albanian individual with renal agenesis (PMID: 21900877), but has also been identified in >1% of South Asian chromosomes and 4 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for autosomal dominant renal agenesis.
Fulgent Genetics, Fulgent Genetics	RCV001156714	SCV002796246	likely benign	Fraser syndrome 1	2022-01-11	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514095	SCV001800470	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000514095	SCV001931129	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000180373	SCV001975487	benign	not specified		no assertion criteria provided	clinical testing