ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1457+5G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003380095 SCV004096190 uncertain significance Cardiovascular phenotype 2023-08-24 criteria provided, single submitter clinical testing The c.1457+5G>T intronic variant results from a G to T substitution 5 nucleotides after coding exon 16 in the MYBPC3 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697288 SCV005199336 likely pathogenic not provided 2022-08-23 criteria provided, single submitter clinical testing

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