ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2929-5G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002440021 SCV002748766 uncertain significance Cardiovascular phenotype 2021-06-22 criteria provided, single submitter clinical testing The c.2929-5G>A intronic variant results from a G to A substitution 5 nucleotides upstream from coding exon 21 in the MYH6 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003775419 SCV004627838 uncertain significance Hypertrophic cardiomyopathy 14 2023-11-24 criteria provided, single submitter clinical testing This sequence change falls in intron 22 of the MYH6 gene. It does not directly change the encoded amino acid sequence of the MYH6 protein. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1797771). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.

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