ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.8604+5G>A

gnomAD frequency: 0.00003  dbSNP: rs200282443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand RCV001172428 SCV001335487 likely 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
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328204 SCV001449322 uncertain significance Congenital anomaly of kidney and urinary tract 2018-10-24 no assertion criteria provided clinical testing This fetus is also heterozygous for a second variant of unknown clinical significance (VOUS), c.8604+5G>A p.(?), in the FRAS1 gene. To our knowledge, this variant has not been previously reported in the literature and no frequency data is available. In silico analysis (Alamut Visual v2.4) predicts this variant to reduce the splicing efficiency of the consensus splice donor site at c.8604. However, this analysis alone cannot be used to confirm pathogenicity.

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