ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.4880G>A (p.Arg1627His)

gnomAD frequency: 0.00005  dbSNP: rs759857680
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489900 SCV000576596 uncertain significance not provided 2018-10-12 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MED12 gene. Although the R1627H variant has not been published as pathogenic or been reported as benign to our knowledge, it has been identified as hemizygous in one affected individual who underwent exome testing at GeneDx. Nevertheless, the R1627H variant is observed in 7/199,129 global alleles, including four hemizygous individuals, in large population cohorts (Lek et al., 2016). The R1627H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.
Invitae RCV001515052 SCV001723039 benign FG syndrome 1 2022-07-19 criteria provided, single submitter clinical testing

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