ClinVar Miner

Submissions for variant NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn) (rs144716013)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413895 SCV000490458 likely pathogenic not provided 2018-10-11 criteria provided, single submitter clinical testing The D933N variant in the CENPE gene has been reported previously in the compound heterozygous state in two siblings with marked microcephaly, growth failure, developmental delay, and facial dysmorphism (Mirzaa et al., 2014). The D933N variant is observed in 10/34250 (0.029%) alleles from individuals of Latino background in large population cohorts, and no individuals are reported to be homozygous (Lek et al., 2016). The D933N variant is a semi-conservative amino acid substitution. Functional characterization of the D933N variant indicates that this variant induces mitotic spindle abnormalities and results in an increased frequency of polar chromosomes (Mirzaa et al., 2014). We interpret D933N as a likely pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000144849 SCV000894329 likely pathogenic Primary autosomal recessive microcephaly 13 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000144849 SCV000191869 pathogenic Primary autosomal recessive microcephaly 13 2014-08-01 no assertion criteria provided literature only

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