ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.937G>C (p.Val313Leu)

dbSNP: rs1340481051
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001364522 SCV001560675 uncertain significance Koolen-de Vries syndrome 2022-08-23 criteria provided, single submitter clinical testing 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1055792). This variant has not been reported in the literature in individuals with KANSL1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 313 of the KANSL1 protein (p.Val313Leu). 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.

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