ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9504G>C (p.Leu3168Phe)

gnomAD frequency: 0.00005  dbSNP: rs185247491
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206434 SCV001377742 likely benign Duchenne muscular dystrophy 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375142 SCV002685450 uncertain significance Cardiovascular phenotype 2021-02-16 criteria provided, single submitter clinical testing The p.L3168F variant (also known as c.9504G>C), located in coding exon 65 of the DMD gene, results from a G to C substitution at nucleotide position 9504. The leucine at codon 3168 is replaced by phenylalanine, an amino acid with highly similar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.002% (4/205264) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.02% (4/18979) of African/African-American alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002484115 SCV002777272 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-08-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828655 SCV002077663 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-07-10 no assertion criteria provided clinical testing

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