ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10440C>G (p.Asn3480Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003513244 SCV004273696 likely benign Duchenne muscular dystrophy 2022-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004369108 SCV005021309 uncertain significance Cardiovascular phenotype 2023-10-10 criteria provided, single submitter clinical testing The p.N3480K variant (also known as c.10440C>G), located in coding exon 74 of the DMD gene, results from a C to G substitution at nucleotide position 10440. The asparagine at codon 3480 is replaced by lysine, an amino acid with similar properties. Based on data from gnomAD, the G allele has an overall frequency of <0.01% (1/174795) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was <0.01% (1/77203) of European (non-Finnish) alleles. This amino acid position is well 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.

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