ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.12G>A (p.Met4Ile) (rs146472353)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721480 SCV000536100 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing
Invitae RCV000644668 SCV000766371 uncertain significance Koolen-de Vries syndrome 2017-11-07 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 4 of the KANSL1 protein (p.Met4Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs146472353, ExAC 0.02%). This variant has not been reported in the literature in individuals with KANSL1-related disease. ClinVar contains an entry for this variant (Variation ID: 392775). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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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