ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.536G>C (p.Gly179Ala)

gnomAD frequency: 0.00004  dbSNP: rs760014906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004591431 SCV000573544 uncertain significance not provided 2024-05-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function
Ambry Genetics RCV002350078 SCV002641629 uncertain significance Cardiovascular phenotype 2023-02-23 criteria provided, single submitter clinical testing The c.536G>C (p.G179A) alteration is located in exon 1 (coding exon 1) of the ZNF469 gene. This alteration results from a G to C substitution at nucleotide position 536, causing the glycine (G) at amino acid position 179 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002489176 SCV002775643 uncertain significance Brittle cornea syndrome 1 2021-09-21 criteria provided, single submitter clinical testing

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