ClinVar Miner

Submissions for variant NM_001270.4(CHD1):c.3113G>T (p.Arg1038Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001263358 SCV001441400 uncertain significance Autistic disorder of childhood onset; Intellectual disability 2020-03-02 criteria provided, single submitter clinical testing The c.3113G>T (p.Arg1038Ile) variant identified in the CHD1 gene substitutes a highly conserved Arginine for Isoleucine at amino acid 1038/1711 (coding exon 22/35). This variant is absent from gnomAD suggesting it is not a common benign variant in the populations represented in this database. In silico algorithms do not agree on the effect of this variant, as it is predicted both Deleterious (Provean; score: -3.40) and Tolerated (SIFT; score: 0.121) to the function of the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. The p.Arg1038 residue is not within a mapped domain of CHD1(UniProtKB: O14646). Given the lack of compelling evidence for its pathogenicity, the c.3113G>T (p.Arg1038Ile) variant identified in the CHD1 gene is reported here as a Variant of Uncertain Significance.

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