ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr)

gnomAD frequency: 0.04541  dbSNP: rs113937803
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000323157 SCV000333224 benign not specified 2015-08-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000356310 SCV000399269 likely benign Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000323157 SCV000527990 benign not specified 2016-10-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002059100 SCV002344173 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000356310 SCV002514250 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278269 SCV002565271 benign Ehlers-Danlos syndrome 2022-03-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379113 SCV002690122 benign Cardiovascular phenotype 2019-03-01 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV002059100 SCV005212226 likely benign not provided criteria provided, single submitter not provided

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