ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3988C>T (p.Arg1330Trp)

gnomAD frequency: 0.00016  dbSNP: rs369542138
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634439 SCV000755746 uncertain significance CHARGE association 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1330 of the CHD7 protein (p.Arg1330Trp). This variant is present in population databases (rs369542138, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CHD7-related conditions. ClinVar contains an entry for this variant (Variation ID: 529138). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002317385 SCV000850852 uncertain significance Inborn genetic diseases 2017-03-29 criteria provided, single submitter clinical testing The p.R1330W variant (also known as c.3988C>T), located in coding exon 15 of the CHD7 gene, results from a C to T substitution at nucleotide position 3988. The arginine at codon 1330 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001507734 SCV001713464 uncertain significance not provided 2020-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477391 SCV002780609 uncertain significance CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-03-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001507734 SCV003831976 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing

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