ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1252-10T>G (rs201019553)

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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,Partners HealthCare Personalized Medicine RCV000155650 SCV000205359 likely benign not specified 2016-08-23 criteria provided, single submitter clinical testing c.1252-10T>G in intron 10 of NEXN: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. I t has been identified in 0.3% (28/8484) of African chromosomes by the Exome Aggr egation Consortium (ExAC,; dbSNP rs201019553).
GeneDx RCV000155650 SCV000236130 uncertain significance not specified 2017-04-18 criteria provided, single submitter clinical testing The c.1252-10 T>G variant of uncertain significance in the NEXN gene has not been published as pathogenic or been reported as benign to our knowledge. In silico splice prediction algorithms predict this variant will result in the loss or reduction of the splice acceptor site for intron 10 and may cause abnormal gene splicing. This 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. However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. In addition, this substitution occurs at a nucleotide that is not conserved across species, and guanine (G) is the wild-type nucleotide at this position in at least two species. Finally, the Exome Aggregation Consortium (ExAC) reports the c.1252-10 T>G variant was observed in 28/8,484 (0.3%) alleles from individuals of African ancestry (Lek et al., 2016), indicating it may be a rare benign variant in this population.
Invitae RCV000862187 SCV001002653 benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2020-10-27 criteria provided, single submitter clinical testing

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