ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys)

dbSNP: rs2092311077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253333 SCV001428993 uncertain significance X-linked intellectual disability with marfanoid habitus 2018-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035330 SCV004093185 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-08-23 criteria provided, single submitter clinical testing The c.3640C>T (p.R1214C) alteration is located in exon 26 (coding exon 26) of the MED12 gene. This alteration results from a C to T substitution at nucleotide position 3640, causing the arginine (R) at amino acid position 1214 to be replaced by a cysteine (C). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration was reported in two brothers with mild to moderate intellectual disability, speech and motor delay, seizure disorder, short stature, low weight, friendly personality, excessive talkativeness, long narrow face, telecanthus, and pectus carinatum (Srivastava, 2019). This amino acid position is well conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). This alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneReviews RCV001580312 SCV001809988 not provided FG syndrome 1 no assertion provided literature only Reported in male sibs with features of FG syndrome type 1 and Lujan syndrome

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