ClinVar Miner

Submissions for variant NM_016032.4(ZDHHC9):c.53C>G (p.Pro18Arg)

dbSNP: rs1928391209
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234524 SCV001407176 uncertain significance Syndromic X-linked intellectual disability Raymond type 2019-11-04 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ZDHHC9-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with arginine at codon 18 of the ZDHHC9 protein (p.Pro18Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine.

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