ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7720C>T (p.His2574Tyr)

gnomAD frequency: 0.00001  dbSNP: rs886052410
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000323943 SCV000399400 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021681 SCV003891842 uncertain significance Cardiovascular phenotype 2023-01-17 criteria provided, single submitter clinical testing The c.7636C>T (p.H2546Y) alteration is located in exon 2 (coding exon 2) of the ZNF469 gene. This alteration results from a C to T substitution at nucleotide position 7636, causing the histidine (H) at amino acid position 2546 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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