ClinVar Miner

Submissions for variant NM_014780.5(CUL7):c.2943_2944del (p.Cys982fs)

dbSNP: rs1064792895
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre RCV000487737 SCV000484401 pathogenic 3-M syndrome 2016-10-14 no assertion criteria provided clinical testing This 2 bp deletion causes a synonymous frameshift mutation at the 981st amino acid causing insertion of 31 missense amino acids and finally leading to a premature truncated product of size 1012 amino acids (p.Leu981Leufs*32). The wild type protein product has 1698 amino acids. This truncation causes loss of whole Cullin and neddylation domain.

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