ClinVar Miner

Submissions for variant NM_014780.5(CUL7):c.1482G>A (p.Trp494Ter)

dbSNP: rs1561892336
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine RCV000778115 SCV000854570 likely pathogenic 3M syndrome 1 2014-03-14 no assertion criteria provided clinical testing The p.Trp494Ter variant in CUL7 has been observed in a 13 year-old-Turkish female 3-M syndrome patient. There was parental consanguinity and autosomal recessive inheritance pattern matching for this variant. In summary, the p.Trp494Ter variant meets our criteria to be classified as likely pathogenic.

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