ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met)

gnomAD frequency: 0.00062  dbSNP: rs201032343
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724539 SCV000229735 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing
GeneDx RCV000724539 SCV000568385 benign not provided 2020-06-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25472840)
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768182 SCV000898603 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-03-30 criteria provided, single submitter clinical testing CHD7 NM_017780 exon 34 p.Thr2532Met (c.7595C>T): This variant has been reported in the literature in 1 individual with Isolated Gonadotropin-Releasing Horming Deficiency (IGD). Of note, this individual was not reported to have any other features of CHARGE syndrome (Balasubramanian 2014 PMID:25472840). This variant is present in 0.1% (44/23216) of African alleles including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs201032343). This variant is present in ClinVar (Variation ID:196916). Evolutionary conservation and computational predictive tools for this variant are unclear. In addition, functional studies have shown a deleterious effect of this variant. However, these studies may not accurately represent in vivo human biological function (Balasubramanian 2014 PMID:25472840). In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Mendelics RCV000988069 SCV001137637 uncertain significance CHARGE syndrome 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000988069 SCV001670585 likely benign CHARGE syndrome 2024-11-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818430 SCV002067622 uncertain significance not specified 2018-11-08 criteria provided, single submitter clinical testing
New York Genome Center RCV000768182 SCV002097738 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390433 SCV002668681 likely benign Inborn genetic diseases 2021-09-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic RCV000724539 SCV004224182 uncertain significance not provided 2022-04-26 criteria provided, single submitter clinical testing BS2, PP2, PP3

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