ClinVar Miner

Submissions for variant NM_016032.4(ZDHHC9):c.544C>T (p.Arg182Cys)

dbSNP: rs2124105703
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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 RCV002017156 SCV002294902 uncertain significance Syndromic X-linked intellectual disability Raymond type 2023-04-07 criteria provided, single submitter clinical testing 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 expected to disrupt ZDHHC9 protein function. ClinVar contains an entry for this variant (Variation ID: 1501034). This variant has not been reported in the literature in individuals affected with ZDHHC9-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 182 of the ZDHHC9 protein (p.Arg182Cys). 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.
3billion, Medical Genetics RCV002017156 SCV005329044 likely benign Syndromic X-linked intellectual disability Raymond type 2024-09-20 criteria provided, single submitter clinical testing The hemizygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the hemizygous variant.
GeneDx RCV004797982 SCV005419732 uncertain significance not provided 2024-05-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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