ClinVar Miner

Submissions for variant NM_014865.4(NCAPD2):c.2508del (p.Phe837fs)

dbSNP: rs772347389
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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 RCV001825047 SCV002074145 likely pathogenic Microcephaly 21, primary, autosomal recessive 2022-01-08 criteria provided, single submitter clinical testing Variant summary: NCAPD2 c.2508delC (p.Phe837SerfsX36) 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. The variant allele was found at a frequency of 4e-06 in 251426 control chromosomes. To our knowledge, no occurrence of c.2508delC in individuals affected with Microcephaly 21, Primary, Autosomal Recessive 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.
Neuberg Centre For Genomic Medicine, NCGM RCV001825047 SCV004171295 likely pathogenic Microcephaly 21, primary, autosomal recessive criteria provided, single submitter clinical testing

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