ClinVar Miner

Submissions for variant NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter)

gnomAD frequency: 0.00001  dbSNP: rs1023630527
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001858614 SCV002206834 pathogenic not provided 2022-06-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 800989). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This premature translational stop signal has been observed in individual(s) with 3M syndrome (PMID: 22325252). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg382*) in the CUL7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CUL7 are known to be pathogenic (PMID: 16142236, 17675530, 19225462).
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985217 SCV001133247 uncertain significance 3M syndrome 1 2019-09-26 no assertion criteria provided clinical testing

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