ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7102G>A (p.Gly2368Ser)

gnomAD frequency: 0.00078  dbSNP: rs533944505
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551269 SCV001771741 likely benign not provided 2020-06-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
New York Genome Center RCV001837009 SCV002097883 uncertain significance Brittle cornea syndrome 1 2021-02-12 criteria provided, single submitter clinical testing The inherited c.7102G>A (p.Gly2368Ser) variant identified in the ZNF469 gene substitutes a moderately conserved Glycine for Serine at amino acid 2368/3954 (exon 3/3). This variant is found with low frequency in gnomAD(v3.1) (112 heterozygotes, 0 homozygotes; allele frequency: 7.36e-4) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms predict this variant to be Tolerated (SIFT; score:0.387) and Benign (REVEL; score:0.026) to the function of the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. The p.Gly2368 residue is not within a mapped domain of ZNF469 (UniProtKB:Q96JG9). Given the lack of compelling evidencefor its pathogenicity, the inherited c.7102G>A (p.Gly2368Ser) variant identified in the ZNF469gene is reported as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001551269 SCV002431214 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161081 SCV003912722 likely benign Cardiovascular phenotype 2023-02-28 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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