ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.732+2T>G (rs1555338658)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533348 SCV000623756 uncertain significance Hypertrophic cardiomyopathy 2017-05-18 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MYH7-related disease. A different variant affecting this canonical splice site (c.732+1G>A) has been determined to be pathogenic (PMID: 18506004, 22859017, 23861362). This suggests that this nucleotide is important for normal RNA splicing, and that other variants at this position may also be pathogenic. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
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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