ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2509A>G (p.Ser837Gly)

gnomAD frequency: 0.00001  dbSNP: rs776349500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704998 SCV000241331 likely benign not provided 2020-01-03 criteria provided, single submitter clinical testing
Invitae RCV001339133 SCV001532854 uncertain significance Koolen-de Vries syndrome 2021-10-22 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 837 of the KANSL1 protein (p.Ser837Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs776349500, ExAC 0.01%). This missense change has been observed in individual(s) with clinical features of KANSL1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 205746). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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