ClinVar Miner

Submissions for variant NM_000356.4(TCOF1):c.1474G>A (p.Glu492Lys) (rs764314276)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000502683 SCV000590943 likely pathogenic Treacher Collins syndrome 1 2016-04-04 no assertion criteria provided clinical testing The identified variant has been reported in ExAC database as rare variant with allele frequency of 0.001%. MutationTaster and PolyPhen-2 suggest that this variant is probably damaging to protein structure.

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