ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.642+4C>T

gnomAD frequency: 0.00007  dbSNP: rs369858520
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820621 SCV000961339 uncertain significance Hypertrophic cardiomyopathy 14 2024-11-27 criteria provided, single submitter clinical testing 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. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs369858520, gnomAD 0.03%). 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: 662880). 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. 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.
GeneDx RCV001559846 SCV001782156 uncertain significance not provided 2019-07-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown
Ambry Genetics RCV002363156 SCV002658585 uncertain significance Cardiovascular phenotype 2023-12-18 criteria provided, single submitter clinical testing The c.642+4C>T intronic variant results from a C to T substitution 4 nucleotides after coding exon 5 in the MYH6 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002495171 SCV002793476 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-10-13 criteria provided, single submitter clinical testing

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