ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.643-3T>C

gnomAD frequency: 0.00001  dbSNP: rs113552091
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251303 SCV000320574 uncertain significance Cardiovascular phenotype 2021-09-08 criteria provided, single submitter clinical testing The c.643-3T>C intronic variant results from a T to C substitution 3 nucleotides upstream from coding exon 6 in the MYH6 gene. This nucleotide position is poorly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001295234 SCV001484149 uncertain significance Hypertrophic cardiomyopathy 14 2020-04-06 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). This variant has not been reported in the literature in individuals with MYH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 264560). This variant is present in population databases (rs113552091, ExAC 0.02%). This sequence change falls in intron 7 of the MYH6 gene. It does not directly change the encoded amino acid sequence of the MYH6 protein, but it affects a nucleotide within the consensus splice site of the intron.
GeneDx RCV001577574 SCV001804975 likely benign not provided 2019-06-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330617 SCV004038091 uncertain significance not specified 2023-08-19 criteria provided, single submitter clinical testing

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