ClinVar Miner

Submissions for variant NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly) (rs200635860)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520219 SCV000622062 uncertain significance not provided 2018-05-30 criteria provided, single submitter clinical testing The E1333G variant in the ZNF335 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. While not seen in the homozygous state, the E1333G variant is observed in 27/126596 (0.02%) alleles in large population cohorts (Lek et al., 2016). The E1333G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret E1333G as a variant of uncertain significance.
GenomeConnect, ClinGen RCV000709924 SCV000840269 not provided Primary autosomal recessive microcephaly 10 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
OMIM RCV000709924 SCV000886425 pathogenic Primary autosomal recessive microcephaly 10 2019-02-19 no assertion criteria provided literature only

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