ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4170-5G>A

gnomAD frequency: 0.00002  dbSNP: rs755468667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067420 SCV001232481 uncertain significance Hypertrophic cardiomyopathy 2023-09-21 criteria provided, single submitter clinical testing This sequence change falls in intron 30 of the MYH7 gene. It does not directly change the encoded amino acid sequence of the MYH7 protein. This variant is present in population databases (rs755468667, gnomAD 0.007%). 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: 861005). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Ambry Genetics RCV002327351 SCV002630498 uncertain significance Cardiovascular phenotype 2022-01-18 criteria provided, single submitter clinical testing The c.4170-5G>A intronic variant results from a G to A substitution 5 nucleotides upstream from coding exon 29 in the MYH7 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003321798 SCV004026385 uncertain significance not provided 2023-05-17 criteria provided, single submitter clinical testing PM2_SUP

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