ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.732+1del

dbSNP: rs397516266
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000629000 SCV000749910 pathogenic Hypertrophic cardiomyopathy 2024-09-06 criteria provided, single submitter clinical testing This sequence change affects a 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. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with autosomal dominant left ventricular noncompaction and/or Ebstein anomaly (PMID: 18506004, 27788187). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 43102). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003333019 SCV004041158 likely pathogenic Hypertrophic cardiomyopathy 1 2023-01-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333017 SCV004041235 likely pathogenic Dilated cardiomyopathy 1S 2023-01-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333021 SCV004041344 likely pathogenic Myosin storage myopathy 2023-01-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333020 SCV004041373 likely pathogenic Myopathy, myosin storage, autosomal recessive 2023-01-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333018 SCV004041471 likely pathogenic MYH7-related skeletal myopathy 2023-01-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035997 SCV000059649 uncertain significance not specified 2014-04-04 flagged submission clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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