ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.8255A>G (p.Tyr2752Cys) (rs373832446)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080790 SCV000112692 uncertain significance not provided 2016-08-10 criteria provided, single submitter clinical testing
Invitae RCV001079634 SCV000560806 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621258 SCV000737165 uncertain significance Cardiovascular phenotype 2016-09-08 criteria provided, single submitter clinical testing Insufficient evidence
GeneDx RCV000080790 SCV000977094 likely benign not provided 2017-11-09 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000603 SCV001157592 uncertain significance not specified 2018-09-26 criteria provided, single submitter clinical testing The DMD p.Tyr2752Cys variant (rs373832446), to our knowledge, has not been reported in the medical literature or gene specific databases; however, this variant is also listed in the ClinVar database with conflicting interpretations (Variation ID: 94797). This variant is found in the general population with an allele frequency in non-Finnish Europeans of 0.03% (28/87,438 alleles; including 5 hemizygotes) in the Genome Aggregation Database. The tyrosine at codon 2752 is highly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Thus, based on the available information, the clinical significance of this variant is uncertain.

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