ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5922G>T (p.Gln1974His) (rs879255528)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618781 SCV000739139 uncertain significance Cardiovascular phenotype 2016-02-04 criteria provided, single submitter clinical testing The p.Q1974H variant (also known as c.5922G>T), located in coding exon 41 of the MED12 gene, results from a G to T substitution at nucleotide position 5922. The glutamine at codon 1974 is replaced by histidine, an amino acid with highly similar properties. In a family study, this variant was observed to co-segregate with another alterationin theOGT genein three brothers with severe non-syndromicintellectual deficiency and mild dysmorphic features(BouazziH et al.ClinCase Rep.2015;3(7):604-9). In the same study, this variant, but not the OGTalteration,was confirmed in their mother who was described to havelanguage delays and no dysmorphic features.This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6230 samples with coverage at this position. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762650 SCV000892984 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
GeneReviews RCV000239403 SCV000297774 pathogenic FG syndrome 1 2016-08-11 no assertion criteria provided literature only
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital RCV000515779 SCV000611864 benign Intellectual disability 2017-12-06 no assertion criteria provided clinical testing Variant inherited from healthy grandfather of index patient

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