ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4520-3C>T

gnomAD frequency: 0.00001  dbSNP: rs549509054
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477119 SCV000546209 uncertain significance Hypertrophic cardiomyopathy 2023-12-22 criteria provided, single submitter clinical testing This sequence change falls in intron 32 of the MYH7 gene. It does not directly change the encoded amino acid sequence of the MYH7 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs549509054, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. ClinVar contains an entry for this variant (Variation ID: 407177). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Diagnostics, LLC DBA Color Health RCV000776325 SCV000911659 likely benign Cardiomyopathy 2018-10-18 criteria provided, single submitter clinical testing
GeneDx RCV001692129 SCV001911159 likely benign not provided 2018-11-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001692129 SCV003817685 uncertain significance not provided 2022-10-11 criteria provided, single submitter clinical testing

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