ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.461_464del (p.Asn154fs) (rs794729088)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183676 SCV000236145 pathogenic not provided 2013-04-08 criteria provided, single submitter clinical testing The c.461_464delACAA 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 154, changing it to a Isoleucine, and creating a premature stop codon at position 17 of the new reading frame, denoted p.Asn154IlefsX17. 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. With the clinical and molecular information available at this time, we cannot definitively determine if c.461_464delACAA is a disease-causing mutation or a rare benign variant

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