ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2922+6G>C

gnomAD frequency: 0.00001  dbSNP: rs781192476
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000269967 SCV000386119 uncertain significance MYH7-related skeletal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306306 SCV000386120 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000365611 SCV000386121 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271056 SCV000386122 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000330994 SCV000386123 uncertain significance Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV003320167 SCV000386124 uncertain significance Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001187910 SCV001354828 likely benign Cardiomyopathy 2019-06-13 criteria provided, single submitter clinical testing
Invitae RCV000365611 SCV001530962 uncertain significance Hypertrophic cardiomyopathy 2023-03-30 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 312907). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. This variant is present in population databases (rs781192476, gnomAD 0.0009%). This sequence change falls in intron 23 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.

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