ClinVar Miner

Submissions for variant NM_014780.5(CUL7):c.206dup (p.Met69fs)

dbSNP: rs1561898352
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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 RCV000778116 SCV000854635 likely pathogenic 3M syndrome 1 2018-08-27 no assertion criteria provided clinical testing The c.206dupT (p.Met69Ilefs*5) variant in CUL7 has been observed in a 20 year-old-Turkish male 3-M syndrome patient and his older affected sibling. There was parental consanguinity and autosomal recessive inheritance pattern matching for this variant. Patient and his older sibling presented the characteristic features of 3-M syndrome. The c.206dup (p.Met69Ilefs*5) variant meets our criteria to be classified as likely pathogenic.

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