ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.439G>A (p.Ala147Thr)

gnomAD frequency: 0.00002  dbSNP: rs748453083
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238147 SCV002010397 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503255 SCV002799782 uncertain significance X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type 2022-04-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985518 SCV004103468 uncertain significance MED12-related disorder 2022-08-26 criteria provided, single submitter clinical testing The MED12 c.439G>A variant is predicted to result in the amino acid substitution p.Ala147Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/X-70339906-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Invitae RCV003772106 SCV004686753 benign FG syndrome 2023-07-12 criteria provided, single submitter clinical testing

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