ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8399T>C (p.Leu2800Ser)

gnomAD frequency: 0.00006  dbSNP: rs398124071
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630546 SCV000751509 likely benign Duchenne muscular dystrophy 2024-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504994 SCV002814943 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2022-03-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144127 SCV003829508 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162512 SCV003868344 uncertain significance Cardiovascular phenotype 2023-01-27 criteria provided, single submitter clinical testing The p.L2800S variant (also known as c.8399T>C), located in coding exon 57 of the DMD gene, results from a T to C substitution at nucleotide position 8399. The leucine at codon 2800 is replaced by serine, an amino acid with dissimilar properties. Based on data from gnomAD, the C allele has an overall frequency of <0.01% (14/173249) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.05% (14/26643) of Latino alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001826763 SCV002087678 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-04-27 no assertion criteria provided clinical testing

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