ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7901A>G (p.Asn2634Ser)

gnomAD frequency: 0.00002  dbSNP: rs1012221437
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001545631 SCV001764999 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002570668 SCV003280335 uncertain significance CHARGE syndrome 2024-07-11 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 2634 of the CHD7 protein (p.Asn2634Ser). This variant is not present in population databases (gnomAD no frequency). 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: 1186518). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CHD7 protein function with a negative predictive value of 95%. 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 RCV004039268 SCV004923881 uncertain significance Inborn genetic diseases 2023-12-11 criteria provided, single submitter clinical testing The c.7901A>G (p.N2634S) alteration is located in exon 36 (coding exon 35) of the CHD7 gene. This alteration results from a A to G substitution at nucleotide position 7901, causing the asparagine (N) at amino acid position 2634 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005050391 SCV005677173 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2024-02-14 criteria provided, single submitter clinical testing

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