ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile)

gnomAD frequency: 0.00064  dbSNP: rs200596739
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000513147 SCV000235885 likely benign not provided 2020-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083491 SCV000560865 benign Duchenne muscular dystrophy 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513147 SCV000609377 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing DMD: BS2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000183426 SCV000966292 benign not specified 2018-10-10 criteria provided, single submitter clinical testing The p.Asn1109Ile variant in DMD is classified as benign because it has been iden tified in 0.13% (23/17581) of Finnish chromosomes and 12 homozygotes by gnomAD ( http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
Illumina Laboratory Services, Illumina RCV001165857 SCV001328105 uncertain significance Dilated cardiomyopathy 3B 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000513147 SCV001472472 uncertain significance not provided 2019-11-04 criteria provided, single submitter clinical testing The DMD c.3326A>T; p.Asn1109Ile variant (rs200596739), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 201760). This variant is found in the general population with an overall allele frequency of 0.02% (48/183570 alleles, including 11 hemizygotes) in the Genome Aggregation Database. The asparagine at codon 1109 is highly conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: damaging) predict conflicting effects of this variant on protein structure/function. However, due to limited information, the clinical significance of the p.Asn1109Ile variant is uncertain at this time.
Ambry Genetics RCV002321731 SCV002606241 benign Cardiovascular phenotype 2018-12-21 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.
Revvity Omics, Revvity RCV000513147 SCV003830065 likely benign not provided 2023-09-07 criteria provided, single submitter clinical testing

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