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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698036 SCV000826676 uncertain significance Syndromic X-linked intellectual disability Raymond type 2023-10-16 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). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ZDHHC9 protein function. 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

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