ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.1811C>A (p.Thr604Asn)

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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 RCV003025718 SCV003313521 uncertain significance Developmental and epileptic encephalopathy 94 2022-02-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CHD2-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant is present in population databases (rs764332853, gnomAD 0.007%). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 604 of the CHD2 protein (p.Thr604Asn).
Ambry Genetics RCV003012275 SCV003562188 uncertain significance Inborn genetic diseases 2021-03-09 criteria provided, single submitter clinical testing The c.1811C>A (p.T604N) alteration is located in exon 16 (coding exon 15) of the CHD2 gene. This alteration results from a C to A substitution at nucleotide position 1811, causing the threonine (T) at amino acid position 604 to be replaced by an asparagine (N). The p.T604N alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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