ClinVar Miner

Submissions for variant NM_022095.4(ZNF335):c.3523_3524insGGCCCTG (p.Glu1175delinsGlyProTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004964962 SCV005539598 pathogenic Inborn genetic diseases 2024-09-05 criteria provided, single submitter clinical testing The c.3523_3524insGGCCCTG (p.E1175Gfs*3) alteration, located in exon 23 (coding exon 22) of the ZNF335 gene, consists of an insertion of GGCCCTG at position 3523, causing a translational frameshift with a predicted alternate stop codon after 3 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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