ClinVar Miner

Submissions for variant NM_033164.4(FGF8):c.323C>T (p.Thr108Met) (rs876661329)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Muenke lab,National Institutes of Health RCV000661903 SCV000746201 likely pathogenic Holoprosencephaly sequence 2018-04-19 criteria provided, single submitter research Experimental and ACMG criteria are met: PS3;PM2;PP2/PP3/PP5. Seen with a potential SHH p.Ser156Arg variant in a suspected case of digenic inheritance. However, functional analysis of this sonic hedgehog variant proved to be indistinguishable from the normal gene in micro-injected zebrafish assays. This FGF8 variant has been seen in an un-related holoprosencephaly family as described in the Submitters publication.
Laboratory of Molecular Genetics,CHU RENNES RCV000223893 SCV000268724 likely pathogenic Semilobar holoprosencephaly 2016-04-13 no assertion criteria provided clinical testing

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