ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3038T>C (p.Leu1013Ser) (rs138490347)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703690 SCV000522035 likely benign not provided 2019-10-02 criteria provided, single submitter clinical testing
Invitae RCV000530673 SCV000645057 uncertain significance Koolen-de Vries syndrome 2020-08-19 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 1013 of the KANSL1 protein (p.Leu1013Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine. This variant is present in population databases (rs138490347, ExAC 0.006%). This variant has not been reported in the literature in individuals with a KANSL1-related disease. ClinVar contains an entry for this variant (Variation ID: 382192). 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). In summary, this variant has uncertain impact on KANSL1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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