ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2441C>G (p.Thr814Ser)

gnomAD frequency: 0.00007  dbSNP: rs757031050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441779 SCV000532034 likely benign not specified 2016-09-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000551684 SCV000645047 uncertain significance Koolen-de Vries syndrome 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 814 of the KANSL1 protein (p.Thr814Ser). This variant is present in population databases (rs757031050, gnomAD 0.007%). 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: 323770). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KANSL1 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.
Ambry Genetics RCV003243079 SCV003941437 uncertain significance Inborn genetic diseases 2023-04-10 criteria provided, single submitter clinical testing The c.2441C>G (p.T814S) alteration is located in exon 10 (coding exon 9) of the KANSL1 gene. This alteration results from a C to G substitution at nucleotide position 2441, causing the threonine (T) at amino acid position 814 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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