ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.5472+1G>A

gnomAD frequency: 0.00001  dbSNP: rs758888662
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487929 SCV000575089 likely pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Invitae RCV001215018 SCV001386737 likely pathogenic Myopathy, proximal, and ophthalmoplegia 2019-07-12 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MYH2 are known to be pathogenic (PMID: 20418530, 23388406, 24193343). This variant has not been reported in the literature in individuals with MYH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 425123). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change affects a donor splice site in intron 37 of the MYH2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
GeneDx RCV000487929 SCV001991337 uncertain significance not provided 2019-06-06 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Canonical splice site variant predicted to result in an in-frame deletion of exon 37; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001215018 SCV002496428 uncertain significance Myopathy, proximal, and ophthalmoplegia 2022-03-10 criteria provided, single submitter clinical testing

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