ClinVar Miner

Submissions for variant NM_014026.6(DCPS):c.454C>T (p.Arg152Ter)

gnomAD frequency: 0.00003  dbSNP: rs904572688
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Total submissions: 1
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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 RCV001806794 SCV002051237 likely pathogenic Al-Raqad syndrome 2021-12-18 criteria provided, single submitter clinical testing Variant summary: DCPS c.454C>T (p.Arg152X) 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. Truncations downstream of this position have not been classified as pathogenic by our laboratory nor reported in the HGMD/LOVD databases. The variant allele was found at a frequency of 4e-06 in 251474 control chromosomes. To our knowledge, no occurrence of c.454C>T in individuals affected with Al-Raqad Syndrome 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.

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