ClinVar Miner

Submissions for variant NM_001190417.2(ZNF674):c.975_976del (p.His325_Ile326insTer)

dbSNP: rs778073001
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222000 SCV000271201 likely benign not specified 2015-07-15 criteria provided, single submitter clinical testing p.Ile331X (c.990_9901del) in exon 6 of ZNF674: This variant is not expected to h ave clinical significance because it has been identified in 0.4% (26/6239) of Eu ropean chromosomes by the NHLBI Exome Sequence Project (http://evs.gs.washington .edu/EVS). This variant is predicted to cause a frameshift, which alters the pro tein?s amino acid sequence beginning at position 331 and leads to an immediate p remature termination codon. This alteration occurs within the last exon and is m ore likely to escape nonsense mediated decay (NMD) and result in a truncated pro tein.
Revvity Omics, Revvity RCV003488472 SCV004237791 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing

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