ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.2012T>C (p.Ile671Thr) (rs747781785)

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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 RCV000621846 SCV000736593 uncertain significance Cardiovascular phenotype 2016-05-31 criteria provided, single submitter clinical testing The p.I671T variant (also known as c.2012T>C), located in coding exon 12 of the NEXN gene, results from a T to C substitution at nucleotide position 2012. The isoleucine at codon 671 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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