ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln)

gnomAD frequency: 0.00001  dbSNP: rs753723769
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000351337 SCV000332463 uncertain significance not provided 2015-07-16 criteria provided, single submitter clinical testing
Invitae RCV001055305 SCV001219692 benign CHARGE association 2023-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356366 SCV002649792 uncertain significance Inborn genetic diseases 2017-06-26 criteria provided, single submitter clinical testing The p.R1943Q variant (also known as c.5828G>A), located in coding exon 28 of the CHD7 gene, results from a G to A substitution at nucleotide position 5828. The arginine at codon 1943 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002487186 SCV002780096 uncertain significance CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-10-19 criteria provided, single submitter clinical testing

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