ClinVar Miner

Submissions for variant NM_016032.4(ZDHHC9):c.777C>T (p.Asp259=) (rs751918374)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537419 SCV000647894 uncertain significance Mental retardation, X-linked, syndromic, Raymond type 2019-05-20 criteria provided, single submitter clinical testing This sequence change affects codon 259 of the ZDHHC9 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ZDHHC9 protein. This variant is present in population databases (rs751918374, ExAC 0.02%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals with ZDHHC9-related disease. ClinVar contains an entry for this variant (Variation ID: 470202). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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