ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1400T>C (p.Ile467Thr) (rs370195451)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208073 SCV000264126 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248087 SCV000320021 uncertain significance Cardiovascular phenotype 2015-08-11 criteria provided, single submitter clinical testing The p.I467T variant (also known as c.1400T>C), located in coding exon 10 of the NEXN gene, results from a T to C substitution at nucleotide position 1400. The isoleucine at codon 467 is replaced by threonine, an amino acid with somesimilar properties. This variant was previously reported in theSNPDatabaseasrs370195451.Based on data from the NHLBI Exome Sequencing Project (ESP), the C allele has an overall frequency of approximately 0.01% (1/11722) total alleles studied and 0.01% (1/8140) European American alleles. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis.Since supporting evidence is limited at this time, the clinical significance of this variantremains unclear.

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