ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)

gnomAD frequency: 0.00101  dbSNP: rs142962579
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229697 SCV000290337 benign CHARGE syndrome 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000243125 SCV000312947 benign not specified criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000229697 SCV000328322 benign CHARGE syndrome 2016-09-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000243125 SCV000331394 benign not specified 2016-02-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397991 SCV000474392 likely benign Hypogonadotropic hypogonadism 5 with or without anosmia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000229697 SCV000781102 benign CHARGE syndrome 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317769 SCV000849462 benign Inborn genetic diseases 2017-05-02 criteria provided, single submitter clinical testing This alteration is classified as 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000243125 SCV000967054 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Gly522Val in exon 2 of CHD7: This variant is not expected to have clinical sig nificance because it has been identified in 3.10% (265/8554) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs142962579).
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001002740 SCV001160735 benign Premature ovarian failure 2019-04-22 criteria provided, single submitter research This variant was identified as homozygous in a female individual with hypergonadotropic hypogonadism and obesity. It was considered in conjuction with homozygous variants in MCM9 and PRKD1 as causitive for the phenotype.
GeneDx RCV001706270 SCV001896358 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31042289, 30653986, 29304373, 28209183)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000243125 SCV003928474 likely benign not specified 2023-04-09 criteria provided, single submitter clinical testing

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