ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1927+1G>A

dbSNP: rs2142859053
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507788 SCV001713563 likely pathogenic not provided 2021-02-11 criteria provided, single submitter clinical testing PVS1_Strong, PM2_supporting
Ambry Genetics RCV003298910 SCV004001261 uncertain significance Cardiovascular phenotype 2023-05-08 criteria provided, single submitter clinical testing The c.1927+1G>A intronic variant results from a G to A substitution one nucleotide after coding exon 20 of the MYBPC3 gene. Alterations that disrupt the canonical splice site are expected to result in aberrant splicing. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. The resulting transcript is predicted to be in-frame and is not expected to trigger nonsense-mediated mRNAdecay; however, direct evidence is unavailable. The exact functional effect of the altered amino acid sequence is unknown. This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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