ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser)

gnomAD frequency: 0.00004  dbSNP: rs780161032
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000258143 SCV000328349 uncertain significance CHARGE association 2016-09-05 criteria provided, single submitter clinical testing
Invitae RCV000258143 SCV001532440 likely benign CHARGE association 2023-12-27 criteria provided, single submitter clinical testing
GeneDx RCV001785541 SCV002027685 uncertain significance not provided 2021-05-21 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002418101 SCV002677991 uncertain significance Inborn genetic diseases 2018-02-28 criteria provided, single submitter clinical testing The p.N2651S variant (also known as c.7952A>G), located in coding exon 35 of the CHD7 gene, results from an A to G substitution at nucleotide position 7952. The asparagine at codon 2651 is replaced by serine, 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 RCV002503969 SCV002815101 uncertain significance CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-05-01 criteria provided, single submitter clinical testing

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