ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2737+5G>A (rs398123280)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618232 SCV000737355 uncertain significance Cardiovascular phenotype 2017-02-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078450 SCV000110303 uncertain significance not provided 2015-09-16 criteria provided, single submitter clinical testing
Invitae RCV000474107 SCV000546446 likely pathogenic Hypertrophic cardiomyopathy 2018-09-06 criteria provided, single submitter clinical testing This sequence change falls in intron 26 of the MYBPC3 gene. It does not directly change the encoded amino acid sequence of the MYBPC3 protein, but it affects a nucleotide within the consensus splice site of the intron. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in several individuals affected with hypertrophic cardiomyopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 92690). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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