ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9352G>A (p.Ala3118Thr)

dbSNP: rs200928985
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001050 SCV001158171 uncertain significance not specified 2019-02-09 criteria provided, single submitter clinical testing The DMD c.9352G>A; p.Ala3118Thr variant (rs200928985), to our knowledge, is not reported in the medical literature but is reported as a variant of uncertain significance in ClinVar (Variation ID: 520520). This variant is found in the Genome Aggregation Database on 2 out of 183,500 alleles, including 1 hemizygote. The alanine at codon 3118 is moderately conserved and computational analyses (SIFT: tolerated, PolyPhen-2: probably damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Ala3118Thr variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001248680 SCV001422185 likely benign Duchenne muscular dystrophy 2024-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372726 SCV002684904 uncertain significance Cardiovascular phenotype 2024-10-16 criteria provided, single submitter clinical testing The p.A3118T variant (also known as c.9352G>A), located in coding exon 64 of the DMD gene, results from a G to A substitution at nucleotide position 9352. The alanine at codon 3118 is replaced by threonine, an amino acid with similar properties. This variant was described in a Duchenne/Becker muscular dystrophy cohort; however, clinical details were not provided (Kim MJ et al. J Mol Diagn, 2016 Mar;18:253-9). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on data from gnomAD, the A allele has an overall frequency of 0.0011% (2/183500) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was 0.0076% (1/13161) of African/African American alleles. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV001832317 SCV002080171 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-07-10 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004738114 SCV005354826 uncertain significance DMD-related disorder 2024-07-04 no assertion criteria provided clinical testing The DMD c.9352G>A variant is predicted to result in the amino acid substitution p.Ala3118Thr. This variant has been reported in a cohort of individuals suspected of Duchenne muscular dystrophy or Becker muscular dystrophy; however, detailed clinical information was not available (Kim et al. 2016. PubMed ID: 26743743). This variant is reported in 0.0076% of alleles in individuals of African descent in gnomAD, including one hemizygote in the database. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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