ClinVar Miner

Submissions for variant NM_001273.5(CHD4):c.2125A>G (p.Thr709Ala)

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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 RCV002711109 SCV003001215 uncertain significance not provided 2022-05-10 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 C55"). This variant has not been reported in the literature in individuals affected with CHD4-related conditions. This variant is present in population databases (rs777539073, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 709 of the CHD4 protein (p.Thr709Ala).
PreventionGenetics, part of Exact Sciences RCV003395503 SCV004121390 uncertain significance CHD4-related disorder 2022-12-19 criteria provided, single submitter clinical testing The CHD4 c.2125A>G variant is predicted to result in the amino acid substitution p.Thr709Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00089% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-6703813-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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