ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.859C>T (p.Gln287Ter)

dbSNP: rs1402442744
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328616 SCV001519773 uncertain significance Dilated cardiomyopathy 1CC 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002447385 SCV002676365 uncertain significance Cardiovascular phenotype 2019-09-10 criteria provided, single submitter clinical testing The p.Q287* variant (also known as c.859C>T), located in coding exon 7 of the NEXN gene, results from a C to T substitution at nucleotide position 859. This changes the amino acid from a glutamine to a stop codon within coding exon 7. 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.

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