ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1445_1446del (p.Lys482fs) (rs794729092)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183680 SCV000236149 pathogenic not provided 2014-06-06 criteria provided, single submitter clinical testing Although the c.1445_1446delAA variant in the NEXN gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Lysine 482, changing it to an Arginine, and creating a premature stop codon at position 5 of the new reading frame, denoted p.Lys482ArgfsX5. 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, only one additional in-frame deletion in the NEXN gene has been reported in association with cardiomyopathy and few mutations have been reported in the NEXN gene 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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