ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1157G>T (p.Ser386Ile)

gnomAD frequency: 0.00007  dbSNP: rs143589497
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644670 SCV000766373 uncertain significance Koolen-de Vries syndrome 2021-09-03 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 serine with isoleucine at codon 386 of the KANSL1 or 17q21.31 segmental duplication protein (p.Ser386Ile). The serine residue is highly conserved and there is a large physicochemical difference between serine and isoleucine. 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. ClinVar contains an entry for this variant (Variation ID: 536295). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
GeneDx RCV001584486 SCV001812413 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22544363)
Mayo Clinic Laboratories, Mayo Clinic RCV001584486 SCV004224388 uncertain significance not provided 2023-04-05 criteria provided, single submitter clinical testing

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