ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.5912C>T (p.Ala1971Val)

dbSNP: rs886052406
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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 RCV000307310 SCV000399371 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356436 SCV002653476 uncertain significance Cardiovascular phenotype 2022-01-02 criteria provided, single submitter clinical testing The p.A1943V variant (also known as c.5828C>T), located in coding exon 2 of the ZNF469 gene, results from a C to T substitution at nucleotide position 5828. The alanine at codon 1943 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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