ClinVar Miner

Submissions for variant NM_021926.4(ALX4):c.16dup (p.Cys6fs)

dbSNP: rs746479735
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002266523 SCV002547543 likely pathogenic Parietal foramina 2 2022-05-10 criteria provided, single submitter clinical testing Variant summary: ALX4 c.16dupT (p.Cys6LeufsX30) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.4e-05 in 215370 control chromosomes (gnomAD). To our knowledge, no occurrence of c.16dupT in individuals affected with Parietal Foramina 2 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Revvity Omics, Revvity RCV003146530 SCV003833573 likely pathogenic not provided 2022-10-06 criteria provided, single submitter clinical testing

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