ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3326A>G (p.Asn1109Ser)

dbSNP: rs200596739
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001323313 SCV001514221 benign Duchenne muscular dystrophy 2024-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322246 SCV002606062 uncertain significance Cardiovascular phenotype 2022-09-28 criteria provided, single submitter clinical testing The p.N1109S variant (also known as c.3326A>G), located in coding exon 25 of the DMD gene, results from an A to G substitution at nucleotide position 3326. The asparagine at codon 1109 is replaced by serine, an amino acid with highly similar properties. Based on data from gnomAD, the G allele has an overall frequency of 0.0006% (1/161551) total alleles studied, with no hemizygotes observed. The highest observed frequency was 0.0014% (1/69485) of European (non-Finnish) 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.
Athena Diagnostics RCV004998822 SCV005622583 uncertain significance not provided 2024-05-23 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Polyphen and MutationTaster yielded discordant predictions regarding whether this amino acid change is damaging to the protein.
Natera, Inc. RCV001836311 SCV002085461 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-11-06 no assertion criteria provided clinical testing

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