ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5459G>A (p.Arg1820Gln)

gnomAD frequency: 0.00001  dbSNP: rs372644599
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472945 SCV000552228 likely benign CHARGE syndrome 2024-07-15 criteria provided, single submitter clinical testing
GeneDx RCV001584166 SCV001818410 uncertain significance not provided 2021-01-07 criteria provided, single submitter clinical testing Observed in a patient with idiopathic hypogonadotropic hypogonadism in published literature; patient was also heterozygous for variants in other genes (Zhao et al., 2019; Li et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 31689711, 28191889, 30576231)
Ambry Genetics RCV002348330 SCV002649121 uncertain significance Inborn genetic diseases 2019-06-29 criteria provided, single submitter clinical testing The p.R1820Q variant (also known as c.5459G>A), located in coding exon 25 of the CHD7 gene, results from a G to A substitution at nucleotide position 5459. The arginine at codon 1820 is replaced by glutamine, an amino acid with highly similar 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.
Revvity Omics, Revvity RCV001584166 SCV003831948 uncertain significance not provided 2021-02-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005044695 SCV005682041 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2024-05-22 criteria provided, single submitter clinical testing

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