Submissions for variant NM_000210.4(ITGA6):c.2651A>G (p.Gln884Arg)

gnomAD frequency: 0.00072  dbSNP: rs61757096

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000388751	SCV000419384	uncertain significance	Junctional epidermolysis bullosa with pyloric atresia	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002521333	SCV003251482	likely benign	not provided	2025-01-23	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002521333	SCV005188049	uncertain significance	not provided		criteria provided, single submitter	not provided
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005398459	SCV006058389	uncertain significance	Epidermolysis bullosa, junctional 6, with pyloric atresia	2021-09-07	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV004757206	SCV005344437	likely benign	ITGA6-related disorder	2024-05-10	no assertion criteria provided	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).