ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3854-5C>T (rs752385694)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000942309 SCV001088231 likely benign not provided 2018-07-30 criteria provided, single submitter clinical testing
Color Health, Inc RCV001177082 SCV001341215 likely benign Cardiomyopathy 2019-04-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001375551 SCV001572420 uncertain significance not specified 2021-04-09 criteria provided, single submitter clinical testing Variant summary: MYH7 c.3854-5C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.2e-05 in 251484 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3854-5C>T has been reported in the literature in one pediatric cardiomyopathy patient with diastolic dysfunction (Quan_2019). The report does not provide unequivocal conclusions about association of the variant with Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters (evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV001483851 SCV001688258 likely benign Hypertrophic cardiomyopathy 2020-09-24 criteria provided, single submitter clinical testing

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