ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10661G>T (p.Arg3554Leu)

dbSNP: rs199974153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001002 SCV001158108 uncertain significance not specified 2019-01-07 criteria provided, single submitter clinical testing The DMD c.10661G>T; p.Arg3554Leu variant (rs199974153), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the Latino population with an overall allele frequency of 0.007% (2/27409 alleles, including one hemizygote) in the Genome Aggregation Database. The arginine at codon 3554 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, given the lack of clinical and functional data, the significance of the p.Arg3554Leu variant is uncertain at this time.
Natera, Inc. RCV001832316 SCV002077594 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-07-29 no assertion criteria provided clinical testing

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