Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001078505 | SCV000623661 | likely benign | Hypertrophic cardiomyopathy | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001844062 | SCV000696340 | likely benign | not specified | 2022-02-21 | criteria provided, single submitter | clinical testing | Variant summary: MYH7 c.2162+9G>A 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 0.00011 in 251454 control chromosomes, predominantly within the South Asian subpopulation at a frequency of 0.00085 in the gnomAD database. This frequency is somewhat lower than the estimated maximum expected for a pathogenic variant in MYH7 causing Cardiomyopathy (0.0013). To our knowledge, no occurrence of c.2162+9G>A in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and both of them classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign. |
Gene |
RCV000588965 | SCV000729187 | likely benign | not provided | 2018-04-05 | criteria provided, single submitter | clinical testing |