ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) (rs727504461)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155585 SCV000205293 uncertain significance not specified 2013-04-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ile382del varia nt in TJP2 has not been reported in affected individuals, but has been identifie d in 0.07% (6/8254) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs2 01033926). Although this variant has been seen in the general population, its f requency is not high enough to rule out a pathogenic role. This variant causes a n in-frame deletion of a single amino acid isoleucine (Ile)] at position 382 tha t is not highly conserved in mammals and across evolutionarily distant species. In summary, the clinical significance of this variant cannot be determined with certainty; however, based upon its presence in the general population and the la ck of conservation at the amino acid position, we lean towards a more likely ben ign role.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724040 SCV000232666 uncertain significance not provided 2014-08-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391968 SCV000480552 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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