ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile)

gnomAD frequency: 0.00004  dbSNP: rs143796440
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000984479 SCV001021976 uncertain significance Familial atrioventricular septal defect 2019-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354890 SCV002656267 uncertain significance Inborn genetic diseases 2018-06-04 criteria provided, single submitter clinical testing The p.V2030I variant (also known as c.6088G>A), located in coding exon 29 of the CHD7 gene, results from a G to A substitution at nucleotide position 6088. The valine at codon 2030 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly 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 RCV002488072 SCV002777504 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549627 SCV003256545 likely benign CHARGE syndrome 2024-12-24 criteria provided, single submitter clinical testing

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