ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) (rs148509395)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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 Institute Rare Disease Group, Broad Institute 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.
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

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