ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4360-7C>G

dbSNP: rs58949384
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Total submissions: 4
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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 RCV000154757 SCV000204437 uncertain significance not specified 2014-06-05 criteria provided, single submitter clinical testing The 4360-7C>G variant in MYH6 has not been previously reported in individuals wi th cardiomyopathy or in large population studies. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. How ever, this information is not predictive enough to rule out pathogenicity. In su mmary, the clinical significance of the 4360-7C>G variant is uncertain.
Invitae RCV000647092 SCV000768879 benign Hypertrophic cardiomyopathy 14 2024-01-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001657880 SCV001473856 uncertain significance not provided 2020-01-16 criteria provided, single submitter clinical testing The MYH6 c.4360-7C>G variant (rs58949384), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 178067). This variant is found in the African population with an allele frequency of 0.13% (32/24706 alleles) in the Genome Aggregation Database. This is an intronic variant in a moderately conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site. However, without functional studies, the effect on splicing is unknown. Due to limited information, the clinical significance of the c.4360-7C>G variant is uncertain at this time.
GeneDx RCV001657880 SCV001872782 uncertain significance not provided 2021-07-26 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; Reported in ClinVar (ClinVar Variant ID# 178067; Landrum et al., 2016)

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