ClinVar Miner

Submissions for variant NM_001813.3(CENPE):c.4063A>G (p.Lys1355Glu)

gnomAD frequency: 0.00034  dbSNP: rs141488085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001847771 SCV002104328 uncertain significance not provided 2022-07-15 criteria provided, single submitter clinical testing Observed with a variant on the opposite allele (in trans) in a patient with microcephalic primordial dwarfism in the published literature (Mirzaa et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 22974711, 24748105)
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000144850 SCV005374292 uncertain significance Microcephaly 13, primary, autosomal recessive 2024-09-22 criteria provided, single submitter clinical testing
OMIM RCV000144850 SCV000191870 pathogenic Microcephaly 13, primary, autosomal recessive 2014-08-01 no assertion criteria provided literature only

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