ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.5419_5424del (p.Phe1807_Ser1808del) (rs730882178)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000002948 SCV000916077 uncertain significance Fraser syndrome 1 2017-08-16 criteria provided, single submitter clinical testing The FRAS1 c.5419_5424delTTCTCT (p.Phe1807_Ser1808del) inframe deletion variant, also described as c.5446delTCTTTC, is reported in a compound heterozygous state in one individual affected with Fraser syndrome (Slavotinek et al. 2006). The p.Phe1807_Ser1808del variant, which occurs in the NG2-like domain of the protein, was also present in a heterozygous state in the unaffected mother of the affected individual but was absent from 180 control chromosomes. Frequency information is not available for this variant from the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Database. Based on the limited evidence, the p.Phe1807_Ser1808del variant is classified as a variant 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.
OMIM RCV000002948 SCV000023106 pathogenic Fraser syndrome 1 2006-09-15 no assertion criteria provided literature only

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