ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp)

gnomAD frequency: 0.00279  dbSNP: rs199519673
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704652 SCV000589898 likely benign not provided 2021-02-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24895405)
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027811 SCV001190427 likely benign Brittle cornea syndrome 1 2019-10-22 criteria provided, single submitter clinical testing ZNF469 NM_001127464.2 exon 2 p.Glu2509Asp (c.7527G>C): This variant has been reported in the literature in one individual with keratoconus (Lechner 2014 PMID:24895405). However, this variant is also present in 0.8% (145/16606) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-88501489-G-C). This variant is present in ClinVar (Variation ID:432202). This variant amino acid Aspartic acid (Asp) is present in several species including multiple mammals, and it is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant suggests that this variant does not cause disease, but requires further evidence. Therefore this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001704652 SCV002469685 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001027811 SCV002514311 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395203 SCV002669127 likely benign Cardiovascular phenotype 2019-12-03 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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