ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2450G>A (p.Arg817His)

gnomAD frequency: 0.00001  dbSNP: rs749801457
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003596558 SCV000931127 likely benign FG syndrome 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535854 SCV003739781 uncertain significance Inborn genetic diseases 2021-03-03 criteria provided, single submitter clinical testing The c.2450G>A (p.R817H) alteration is located in exon 18 (coding exon 18) of the MED12 gene. This alteration results from a G to A substitution at nucleotide position 2450, causing the arginine (R) at amino acid position 817 to be replaced by a histidine (H). The p.R817H alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003228988 SCV003926120 uncertain significance not provided 2023-05-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 639131; ClinVar); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26582918)

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