ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.571del (p.Asp191fs) (rs794729089)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183677 SCV000236146 uncertain significance not provided 2016-10-10 criteria provided, single submitter clinical testing The c.571delG variant in the NEXN gene has not been reported as a disease-causing mutation to our knowledge. This variant causes a shift in reading frame starting at codon Asparagine 191, changing it to a Isoleucine, and creating a premature stop codon at position 2 of the new reading frame, denoted p.Asn191IlefsX2. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. However, there have been no truncating mutations in the NEXN gene reported to date. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.

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