ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10258T>C (p.Ser3420Pro)

dbSNP: rs1569418231
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756028 SCV000883733 uncertain significance not provided 2018-06-29 criteria provided, single submitter clinical testing The p.Ser3420Pro variant has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. It is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD). The serine at position 3420 is highly conserved up to fruitfly considering 7 species (Alamut v2.11) and computational analyses of the p.Ser3420Pro variant on protein structure and function indicate a neutral effect (SIFT: tolerated, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Ser3420Pro variant with certainty.
Natera, Inc. RCV001835946 SCV002077609 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-11-25 no assertion criteria provided clinical testing

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