ClinVar Miner

Submissions for variant NM_001190417.2(ZNF674):c.692A>G (p.Lys231Arg)

gnomAD frequency: 0.00400  dbSNP: rs201621696
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079385 SCV000111264 benign not specified 2013-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720984 SCV000851868 uncertain significance History of neurodevelopmental disorder 2013-12-26 criteria provided, single submitter clinical testing The p.K236R variant (also known as c.707A>G), located in coding exon 4 of the ZNF674 gene, results from an A to G substitution at nucleotide position 707. The lysine at codon 236 is replaced by arginine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs201621696. Based on data from the NHLBI Exome Sequencing Project (ESP), the G allele has an overall frequency of approximately 0.58% (13/2230) total male alleles studied having been observed in 0.77% (13/1680) European American male alleles but absent out of 550 African American male alleles studied. This amino acid position is not conserved on species alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
PreventionGenetics, part of Exact Sciences RCV003925046 SCV004741897 benign ZNF674-related disorder 2019-05-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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