ClinVar Miner

Submissions for variant NM_006494.4(ERF):c.547C>T (p.Arg183Ter)

dbSNP: rs587777006
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534904 SCV000657544 pathogenic TWIST1-related craniosynostosis 2021-12-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg183*) in the ERF gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 366 amino acid(s) of the ERF protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ERF protein in which other variant(s) (p.Gly299Argfs*9) have been determined to be pathogenic (PMID: 23354439). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 55923). This premature translational stop signal has been observed in individual(s) with clinical features of ERF-related conditions (PMID: 23354439). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency).
Fulgent Genetics, Fulgent Genetics RCV000763434 SCV000894200 pathogenic Craniosynostosis 4; Chitayat syndrome 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000049336 SCV000081768 pathogenic Craniosynostosis 4 2013-03-01 no assertion criteria provided literature only

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