ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3336+3G>A

dbSNP: rs397516180
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035847 SCV000059498 uncertain significance not specified 2014-03-07 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Ambry Genetics RCV000621800 SCV000737337 uncertain significance Cardiovascular phenotype 2017-12-16 criteria provided, single submitter clinical testing The c.3336+3G>A intronic variant results from a G to A substitution 3 nucleotides after exon 26 in the MYH7 gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000820954 SCV000961693 uncertain significance Hypertrophic cardiomyopathy 2023-08-02 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: 42954). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. This variant is present in population databases (rs397516180, gnomAD 0.0009%). This sequence change falls in intron 26 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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