ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.496A>G (p.Thr166Ala)

gnomAD frequency: 0.00001  dbSNP: rs778413024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001905862 SCV002151752 uncertain significance Koolen-de Vries syndrome 2021-09-17 criteria provided, single submitter clinical testing Due to the possible presence of a polymorphic segmental duplication, the location of the variant could not be unambiguously resolved. Variants with ambiguous mapping are still reported relative to the KANSL1 transcript. This sequence change replaces threonine with alanine at codon 166 of the KANSL1 protein (p.Thr166Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. The frequency data for this variant in the population databases (ExAC) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. This variant has not been reported in the literature in individuals with KANSL1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Until the location of this sequence change can be resolved, the clinical significance of this variant remains uncertain. It has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001905862 SCV002814288 uncertain significance Koolen-de Vries syndrome 2021-07-09 criteria provided, single submitter clinical testing

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