ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.732+1G>T

dbSNP: rs730880850
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383488 SCV001582639 pathogenic Hypertrophic cardiomyopathy 2020-03-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. Disruption of this splice site has been observed in individual(s) with left ventricular noncompaction (PMID: 18506004). It has also been observed to segregate with disease in related individuals. This splice site is also known as 818+1G in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 8 of the MYH7 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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