ClinVar Miner

Submissions for variant NM_001927.4(DES):c.736-8C>A (rs140375681)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711440 SCV000565986 uncertain significance not provided 2018-11-19 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DES gene. Although the c.736-8 C>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge, it has been reported in one other individual tested for cardiomyopathy at GeneDx. In silico splice prediction programs show c.736-8 C>A results in a reduction in efficiency or complete loss of the natural splice acceptor site in intron 3 of the DES gene and is predicted to cause abnormal gene splicing. The c.736-8 C>A variant may lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site variants have been reported in the Human Gene Mutation Database in association with myopathy and cardiomyopathy (Stenson P et al., 2014). However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Furthermore, the NHLBI Exome Sequencing Project and the 1000 Genomes Project identified the c.736-8 C>A variant with a frequency of approximately 0.1-0.4% of alleles, in individuals of African ancestry. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Invitae RCV001088745 SCV000654179 likely benign Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2020-12-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000482297 SCV000710896 likely benign not specified 2019-01-18 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Athena Diagnostics Inc RCV000711440 SCV000841806 uncertain significance not provided 2017-12-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000711440 SCV000859568 uncertain significance not provided 2018-02-13 criteria provided, single submitter clinical testing

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