ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.677del (p.Ser226fs) (rs397517859)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041180 SCV000064871 uncertain significance not specified 2012-02-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Ser226fs va riant (NEXN) has not been reported in the literature nor previously identified b y our laboratory. This frameshift variant is predicted to alter the protein?s a mino acid sequence beginning at position 226 and lead to a premature termination codon 2 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Although the severe nature of the change increases the likelihood that the variant is pathogenic, the NEXN gene has not been widely studied and the spectrum of variants leading to disease is not well defined. To date, only a small number of missense variants in this gene have been reported in individuals with cardiomyopathy. In summary, it has not yet been established whether loss of function variants in the NEXN gene can cause disease and the cli nical significance of this variant can therefore not be determined at this time.

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