ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.447+5C>T

gnomAD frequency: 0.00006  dbSNP: rs727503343
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Total submissions: 2
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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 RCV000151559 SCV000199699 uncertain significance not specified 2014-01-28 criteria provided, single submitter clinical testing The 447+5C>T variant in NEXN has not been reported in individuals with cardiomyo pathy or in large population studies. This variant is located in the 5' splice r egion. Computational tools do not suggest an impact to splicing. However, this i nformation is not predictive enough to rule out pathogenicity. Additional inform ation is needed to fully assess the clinical significance of the 447+5C>T varian t.
Ambry Genetics RCV002326867 SCV002636671 uncertain significance Cardiovascular phenotype 2019-03-01 criteria provided, single submitter clinical testing The c.447+5C>T intronic variant results from a C to T substitution 5 nucleotides after coding exon 4 in the NEXN gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor/donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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