ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1768_1769delinsAG (p.Ala590Arg) (rs2078387202)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205472 SCV001376732 likely pathogenic Koolen-de Vries syndrome 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces alanine with arginine at codon 590 of the KANSL1 protein (p.Ala590Arg). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Koolen-de Vries syndrome (Invitae). In at least one individual the variant was observed to be de novo. 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). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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