Submissions for variant NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys)

gnomAD frequency: 0.00347  dbSNP: rs144983062

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079985	SCV000111876	benign	not specified	2013-08-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000079985	SCV000513295	benign	not specified	2017-12-05	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000079985	SCV000539398	uncertain significance	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Variant reported in homozygous state in individual with congenital fiber-type disproportion - individual had hypotonia but pulmonary phenotypes were not reported. However, variant has high frequency, 5 homozygotes are present in ExAC, and Emory classifies as benign.
Invitae	RCV000988860	SCV000648323	benign	Congenital muscular dystrophy due to integrin alpha-7 deficiency	2024-01-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000988860	SCV001138752	benign	Congenital muscular dystrophy due to integrin alpha-7 deficiency	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000531646	SCV001148760	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ITGA7: BP4, BS2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	RCV000988860	SCV001984230	benign	Congenital muscular dystrophy due to integrin alpha-7 deficiency	2020-03-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905050	SCV004726625	likely benign	ITGA7-related condition	2019-11-18	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000531646	SCV001800624	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000531646	SCV001964413	likely benign	not provided		no assertion criteria provided	clinical testing