ClinVar Miner

Submissions for variant NM_016032.4(ZDHHC9):c.929G>A (p.Arg310Gln)

gnomAD frequency: 0.00003  dbSNP: rs753387074
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698036 SCV000826676 uncertain significance Syndromic X-linked intellectual disability Raymond type 2025-01-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 310 of the ZDHHC9 protein (p.Arg310Gln). This variant is present in population databases (rs753387074, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with ZDHHC9-related conditions. ClinVar contains an entry for this variant (Variation ID: 575731). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ZDHHC9 protein function with a negative predictive value of 80%. 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.
Diagnostic Laboratory, Strasbourg University Hospital RCV001260851 SCV001437947 uncertain significance Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000698036 SCV003826103 uncertain significance Syndromic X-linked intellectual disability Raymond type 2021-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965687 SCV005534732 uncertain significance Inborn genetic diseases 2024-07-02 criteria provided, single submitter clinical testing The c.929G>A (p.R310Q) alteration is located in exon 10 (coding exon 8) of the ZDHHC9 gene. This alteration results from a G to A substitution at nucleotide position 929, causing the arginine (R) at amino acid position 310 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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