ClinVar Miner

Submissions for variant NM_022095.4(ZNF335):c.2158C>T (p.Arg720Cys)

gnomAD frequency: 0.00004  dbSNP: rs750099536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000441740 SCV000510846 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Ambry Genetics RCV002524708 SCV003558260 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.2158C>T (p.R720C) alteration is located in exon 15 (coding exon 14) of the ZNF335 gene. This alteration results from a C to T substitution at nucleotide position 2158, causing the arginine (R) at amino acid position 720 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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