ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.5059G>T (p.Glu1687Ter) (rs148965852)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778396 SCV000914625 uncertain significance FRASER SYNDROME 2 2018-11-04 criteria provided, single submitter clinical testing The FREM2 c.5059G>T (p.Glu1687Ter) variant is a stop-gained variant that is expected to result in an absent or truncated protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.000121 in the European (non-Finnish) population of the Exome Aggregation Consortium. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Glu1687Ter 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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