ClinVar Miner

Submissions for variant NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp)

dbSNP: rs137852214
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091717 SCV001247910 pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000011457 SCV001367753 likely pathogenic Syndromic X-linked intellectual disability Raymond type 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP2,PP3. This variant was detected in hemizygous state.
Diagnostic Laboratory, Strasbourg University Hospital RCV001260822 SCV001437918 likely pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Invitae RCV000011457 SCV001587967 pathogenic Syndromic X-linked intellectual disability Raymond type 2023-04-12 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change affects ZDHHC9 function (PMID: 24811172). 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: 10711). This missense change has been observed in individual(s) with X-linked intellectual disability (PMID: 17436253, 29681091). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 148 of the ZDHHC9 protein (p.Arg148Trp). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011457 SCV000031689 pathogenic Syndromic X-linked intellectual disability Raymond type 2007-05-01 no assertion criteria provided literature only

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