ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1772C>T (p.Thr591Ile)

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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 RCV004148666 SCV003642653 uncertain significance Cardiovascular phenotype 2022-07-26 criteria provided, single submitter clinical testing The c.1772C>T (p.T591I) alteration is located in exon 13 (coding exon 12) of the NEXN gene. This alteration results from a C to T substitution at nucleotide position 1772, causing the threonine (T) at amino acid position 591 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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