ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1A>C (p.Met1Leu) (rs749167943)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619501 SCV000737167 uncertain significance Cardiovascular phenotype 2016-09-15 criteria provided, single submitter clinical testing The p.M1? variant (also known as <span style="background-color:rgb(255, 255, 255); color:rgb(51, 51, 51); font-family:sans-serif,arial,verdana,trebuchet ms; font-size:13px">c.1A>C) is located in coding exon 1 of the NEXN gene and results from an A to C substitution at nucleotide position 1. This alters the methionine residue at the initiation codon. Variations that modify the initiation codon (ATG) are expected to result in either loss of translation initiation, N-terminal truncation, or cause a shift in the mRNA reading frame; however there is an alternate in-frame methionine 37 amino acids from the initiation site and the significance of the N-terminus for this protein is not well established. In addition, loss of function of NEXN has not been clearly established as a mechanism of disease. Based on data from ExAC, the C allele has an overall frequency of less than 0.01% (1/89808). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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