ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: 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 2021-10-03 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 affected with KANSL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 382192). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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