ClinVar Miner

Submissions for variant NM_022095.4(ZNF335):c.1460A>G (p.His487Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004596678 SCV005088779 likely pathogenic Microcephalic primordial dwarfism due to ZNF335 deficiency 2020-02-25 criteria provided, single submitter clinical testing This variant has not been previously reported in the literature. However, in ClinVar database, another missense variant c.1399T>C (p.Cys467Arg) lying in the same domain of the identified variant has been reported as likely pathogenic in the context of primary autosomal recessive microcephaly 10.

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