ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4525+3G>A

gnomAD frequency: 0.00004  dbSNP: rs750348638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001342077 SCV001535983 uncertain significance Hypertrophic cardiomyopathy 14 2022-09-17 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: 1038731). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. This variant is present in population databases (rs750348638, gnomAD 0.03%). This sequence change falls in intron 31 of the MYH6 gene. It does not directly change the encoded amino acid sequence of the MYH6 protein. It affects a nucleotide within the consensus splice site.
Fulgent Genetics, Fulgent Genetics RCV002493752 SCV002790788 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2022-02-08 criteria provided, single submitter clinical testing

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