ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.687+4A>T (rs754061340)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226888 SCV000291372 uncertain significance Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2017-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000412757 SCV000492307 uncertain significance not specified 2016-12-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NEXN gene. The c.687+4 A>T variant has not been published as a pathogenic variant or been reported as a benign variant to our knowledge. This variant was not observed in the Exome Aggregation Consortium or in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.687+4 A>T is predicted to destroy the canonical splice donor site in intron 7 and may cause abnormal gene splicing. However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Furthermore, no pathogenic splice site variants in the NEXN gene have been reported in the Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014).Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign. This result cannot be interpreted for diagnosis or used for family member screening at this time.

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