ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3959C>G (p.Pro1320Arg)

gnomAD frequency: 0.00005  dbSNP: rs766977775
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724947 SCV000332651 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000314992 SCV000531947 likely benign not specified 2017-06-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001087643 SCV001008482 benign Duchenne muscular dystrophy 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165721 SCV003868428 benign Cardiovascular phenotype 2023-02-13 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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