Submissions for variant NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile)

gnomAD frequency: 0.00008  dbSNP: rs369055628

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000513342	SCV000609375	uncertain significance	not provided	2017-02-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000415647	SCV000751521	likely benign	Duchenne muscular dystrophy	2024-04-29	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000513342	SCV001715647	uncertain significance	not provided	2020-12-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000513342	SCV001788988	uncertain significance	not provided	2020-03-30	criteria provided, single submitter	clinical testing	Reported as R1826I, due to alternate nomenclature, in a male teenager with an autism spectrum disorder and no obvious signs of muscular dystrophy; he also harbored a de novo variant in a different gene (Jiang et al., 2013); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 374948; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23849776)
Ambry Genetics	RCV004992198	SCV005566455	uncertain significance	Cardiovascular phenotype	2024-12-06	criteria provided, single submitter	clinical testing	The p.R1830I variant (also known as c.5489G>T), located in coding exon 39 of the DMD gene, results from a G to T substitution at nucleotide position 5489. The arginine at codon 1830 is replaced by isoleucine, an amino acid with similar properties. This variant was reported in an individual in a Duchenne muscular dystrophy cohort, but clinical details were limited (Nallamilli BRR et al. Hum Mutat, 2021 May;42:626-638). Based on data from gnomAD, the T allele has an overall frequency of 0.0044% (9/204351) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.0098% (9/92165) of European (non-Finnish) alleles. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000415685	SCV000493730	uncertain significance	Becker muscular dystrophy	2016-04-19	no assertion criteria provided	clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000415628	SCV000493731	uncertain significance	Dilated cardiomyopathy 3B	2016-04-19	no assertion criteria provided	clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000415647	SCV000493732	uncertain significance	Duchenne muscular dystrophy	2016-04-19	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001833509	SCV002093496	uncertain significance	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2018-07-04	no assertion criteria provided	clinical testing