ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) (rs745597204)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000223984 SCV000281096 pathogenic not provided 2015-01-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000223984 SCV000338139 pathogenic not provided 2015-12-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000778741 SCV000915099 uncertain significance Cryptophthalmos syndrome 2018-10-18 criteria provided, single submitter clinical testing The FRAS1 c.7551T>A (p.Tyr2517Ter) variant is a stop-gained variant that is expected to result in an absent or truncated protein. It has been reported in a heterozygous state in one individual with Fraser syndrome (van Haelst et al. 2008). Control data are unavailable for this variant, which is reported at a frequency of 0.000045 in the European (non-Finnish) population of the Exome Aggregation Consortium. The evidence for this variant is limited. Due to the potential impact of stop-gained variants and the supporting evidence, the p.Tyr2517Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for Fraser syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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