ClinVar Miner

Submissions for variant NM_030973.3(MED25):c.556C>T (p.Arg186Trp) (rs776291104)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Lab, Policlinico S. Orsola.Malpighi RCV000758140 SCV000882839 likely pathogenic Basel-Vanagaite-Smirin-Yosef syndrome 2019-02-14 criteria provided, single submitter clinical testing This is a rare missense variant affecting MED25. Only 2 alleles in gnomAD, allele frequency = 0.00000893 is smaller than 0.0001 threshold for recessive gene MED25. Multiple lines of computational evidence support a deleterious effect on the gene. Patient's phenotype is highly specific for a disease with a single genetic etiology. This variant was detected in trans with a pathogenic variant (p.Pro640LeufsTer81).
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174290 SCV001337420 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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