Submissions for variant NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000488923	SCV000577696	likely pathogenic	not provided	2018-02-19	criteria provided, single submitter	clinical testing	The Q2159P variant in the MED12 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q2159P variant is not observed in large population cohorts (Lek et al., 2016). The Q2159P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. However, the majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014). We interpret Q2159P as a likely pathogenic variant.
OMIM	RCV001290305	SCV001478352	pathogenic	Blepharophimosis - intellectual disability syndrome, MKB type	2021-02-01	no assertion criteria provided	literature only
GeneReviews	RCV001580333	SCV001810010	not provided	FG syndrome 1		no assertion provided	literature only	Reported in 3 male sibs with X-linked Ohdo syndrome

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