ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4525+13T>C

gnomAD frequency: 0.00006  dbSNP: rs397516770
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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 RCV000037508 SCV000061166 likely benign not specified 2012-06-11 criteria provided, single submitter clinical testing 4525+13T>C in intron 31 of MYH6: This variant is classified as likely benign bec ause it is not located within the splice consensus sequence, is not predicted to impact splicing by computational tools, and it has been identified in 0.02% (6/ 30782) of South Asian chromosomes in the Genome Aggregation Database (gnomAD, ht tp://gnomad.broadinstitute.org; dbSNP rs397516770). ACMG/AMP Criteria applied: B S1, BP4.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037508 SCV001774502 benign not specified 2021-07-27 criteria provided, single submitter clinical testing Variant summary: MYH6 c.4525+13T>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00015 in 251452 control chromosomes (gnomAD). The observed variant frequency is approximately 6 fold of the estimated maximal expected allele frequency for a pathogenic variant in MYH6 causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.4525+13T>C in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002513478 SCV002990216 likely benign Hypertrophic cardiomyopathy 14 2023-09-03 criteria provided, single submitter clinical testing

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