ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5662-2A>G

dbSNP: rs2138578417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223480 SCV002501093 uncertain significance not provided 2022-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346559 SCV002653804 uncertain significance Cardiovascular phenotype 2020-01-24 criteria provided, single submitter clinical testing The c.5662-2A>G intronic variant results from an A to G substitution two nucleotides upstream from coding exon 36 in the MYH6 gene. This nucleotide position is highly conserved in available vertebrate species. This alteration was inherited from an unaffected mother in an individual with isolated truncus arteriosus type 1 (Granados-Riveron JT et al. Hum. Mol. Genet., 2010 Oct;19:4007-16). Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice acceptor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. However, loss of function of MYH6 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002481038 SCV002780747 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-10-18 criteria provided, single submitter clinical testing

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