ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.732+2T>G

dbSNP: rs1555338658
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533348 SCV000623756 pathogenic Hypertrophic cardiomyopathy 2022-04-01 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with clinical features of left ventricular noncompaction (PMID: 18506004; Invitae). It has also been observed to segregate with disease in related individuals. 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. ClinVar contains an entry for this variant (Variation ID: 454395). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 8 of the MYH7 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH7 cause disease.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678820 SCV000805006 likely pathogenic Left ventricular noncompaction 2015-05-05 no assertion criteria provided clinical testing

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