ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.551C>A (p.Thr184Asn)

gnomAD frequency: 0.00001  dbSNP: rs1366986871
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644672 SCV000766375 uncertain significance Koolen-de Vries syndrome 2017-12-24 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with KANSL1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with asparagine at codon 184 of the KANSL1 protein (p.Thr184Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine.
Ambry Genetics RCV004985034 SCV005603943 uncertain significance Inborn genetic diseases 2024-12-02 criteria provided, single submitter clinical testing The c.551C>A (p.T184N) alteration is located in exon 2 (coding exon 1) of the KANSL1 gene. This alteration results from a C to A substitution at nucleotide position 551, causing the threonine (T) at amino acid position 184 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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