ClinVar Miner

Submissions for variant NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) (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 Praxis fuer Humangenetik 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 Mental retardation, X-linked, syndromic, 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 Mental retardation, X-linked, syndromic, Raymond type 2020-05-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 148 of the ZDHHC9 protein (p.Arg148Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with X-linked intellectual disability (PMID: 29681091, 17436253). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 10711). This variant has been reported to affect ZDHHC9 protein function (PMID: 24811172). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011457 SCV000031689 pathogenic Mental retardation, X-linked, syndromic, Raymond type 2007-05-01 no assertion criteria provided literature only

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