ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2905+5G>T (rs193922381)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035539 SCV000059189 uncertain significance not specified 2011-03-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The 2905+5G>T v ariant has not been reported in the literature. However, it has been identified by our laboratory in one other Caucasian individual with HCM. This variant is l ocated in the 5' splice region but does not affect the highly conserved +1 and + 2 positions. However, positions +3 to +6 are part of the splicing consensus seq uence and variants involving these positions sometimes affect splicing. Therefor e, the clinical significance of this variant cannot be determined at this time.
GeneDx RCV000413682 SCV000491017 likely pathogenic not provided 2017-03-09 criteria provided, single submitter clinical testing The c.2905+5 G>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge.The c.2905+5 G>T variant was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a nucleotide position that is fully conserved across species, and in silico splice prediction programs predict this variant results in the loss/reduced efficiency of the splice donor site in intron 27 of this gene. Another variant affecting the same splice donor site (c.2905+1 G>A) and other splice site variants at the +5 position have been reported in the MYBPC3 gene in association with HCM (Stenson et al., 2014). Therefore, this variant is likely pathogenic.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770333 SCV000901767 uncertain significance Cardiomyopathy 2017-01-30 criteria provided, single submitter clinical testing

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