ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.1849A>G (p.Thr617Ala)

gnomAD frequency: 0.00009  dbSNP: rs765417606
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000224083 SCV000250602 uncertain significance not provided 2021-10-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25326637)
UCLA Clinical Genomics Center, UCLA RCV000199251 SCV000255409 likely pathogenic X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type 2013-04-23 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224083 SCV000281467 uncertain significance not provided 2016-04-29 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Ambry Genetics RCV002315605 SCV000739138 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-08-09 criteria provided, single submitter clinical testing The p.T617A variant (also known as c.1849A>G), located in coding exon 13 of the MED12 gene, results from an A to G substitution at nucleotide position 1849. The threonine at codon 617 is replaced by alanine, an amino acid with similar properties. This alteration was identified in an individual with autism, craniofacial dysmorphic features, and it was inherited from his mother (Lee H et al. JAMA, 2014 Nov;312:1880-7). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive.
Labcorp Genetics (formerly Invitae), Labcorp RCV003761821 SCV001681893 likely benign FG syndrome 2023-12-06 criteria provided, single submitter clinical testing

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