ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.784C>T (p.Arg262Ter) (rs1002648603)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620205 SCV000737153 uncertain significance Cardiovascular phenotype 2016-09-01 criteria provided, single submitter clinical testing The p.R262* variant (also known as c.784C>T), located in coding exon 7 of the NEXN gene, results from a C to T substitution at nucleotide position 784. This changes the amino acid from an arginine to a stop codon within coding exon 7. This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), Exome Aggregataion Consortium (ExAC), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 5942 samples (11884 alleles) with coverage at this position. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of NEXN has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001223312 SCV001395454 uncertain significance Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2019-07-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg262*) in the NEXN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NEXN-related conditions. ClinVar contains an entry for this variant (Variation ID: 519122). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NEXN cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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