ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.2722+1G>A

gnomAD frequency: 0.00001  dbSNP: rs794727365
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000224135 SCV000227964 pathogenic not provided 2014-12-19 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224135 SCV000280982 pathogenic not provided 2014-07-16 criteria provided, single submitter clinical testing
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand RCV001172426 SCV001335485 pathogenic Fraser syndrome 1 2018-09-14 criteria provided, single submitter clinical testing This variant in homozygous state or compound heterozygous state induced Fraser syndrome phenotype
Labcorp Genetics (formerly Invitae), Labcorp RCV000224135 SCV004293186 likely pathogenic not provided 2023-08-19 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 22 of the FRAS1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FRAS1 are known to be pathogenic (PMID: 12766769, 18671281). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of this splice site has been observed in individual(s) with clinical features of FRAS1 related conditions (PMID: 24551978). ClinVar contains an entry for this variant (Variation ID: 195697). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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