ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4409G>A (p.Arg1470His)

dbSNP: rs752129019
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711458 SCV000841826 uncertain significance not provided 2017-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000797096 SCV000936636 likely benign Duchenne muscular dystrophy 2024-11-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000711458 SCV004234337 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026804 SCV005021726 uncertain significance Cardiovascular phenotype 2024-03-12 criteria provided, single submitter clinical testing The p.R1470H variant (also known as c.4409G>A), located in coding exon 32 of the DMD gene, results from a G to A substitution at nucleotide position 4409. The arginine at codon 1470 is replaced by histidine, an amino acid with highly similar properties. Based on data from gnomAD, the A allele has an overall frequency of <0.01% (1/182821) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was <0.01% (1/81465) of European (non-Finnish) alleles. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001825418 SCV002085326 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-09-20 no assertion criteria provided clinical testing

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