ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.10373C>G (p.Ala3458Gly)

dbSNP: rs1429918039
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001943879 SCV002187620 uncertain significance not provided 2022-06-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1421761). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with ZNF469-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 3430 of the ZNF469 protein (p.Ala3430Gly).
Ambry Genetics RCV004044125 SCV003606331 uncertain significance Cardiovascular phenotype 2022-02-11 criteria provided, single submitter clinical testing The c.10289C>G (p.A3430G) alteration is located in exon 2 (coding exon 2) of the ZNF469 gene. This alteration results from a C to G substitution at nucleotide position 10289, causing the alanine (A) at amino acid position 3430 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003136310 SCV003821858 uncertain significance Brittle cornea syndrome 1 2020-02-19 criteria provided, single submitter clinical testing

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