Submissions for variant NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala)

gnomAD frequency: 0.00006  dbSNP: rs377662366

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180656	SCV000233135	benign	not specified	2017-02-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000303790	SCV000474416	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.
GeneDx	RCV000180656	SCV000512579	benign	not specified	2016-05-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000358556	SCV000631242	benign	CHARGE association	2024-01-25	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000180656	SCV000731859	benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Thr894Ala in exon 9 of CHD7: This variant is not expected to have clinical sig nificance because it has been identified in 3.48% (412/11846) of South Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs377662366).
Ambry Genetics	RCV002314679	SCV000848299	benign	Inborn genetic diseases	2016-11-18	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.