ClinVar Miner

Submissions for variant NM_022124.5(CDH23):c.[7762G>C;7764G>T]

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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 RCV000612673 SCV000731445 uncertain significance not specified 2017-01-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Glu2588His va riant in CDH23 results from the benign c.7762G>C variant and the c.7764G>T varia nt of uncertain significance. These two single nucleotide variants were determi ned to be in cis using NGS read data, and they affect the same codon, resulting in a glutamic acid to a histidine alteration at position 2588. The c.7762G>C va riant is present in 2.9% (283/9860) of South Asian chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs41281338); how ever, the c.7764G>T variant has not been identified in large population studies. The glutamic acid at position 2588 is not conserved through mammals or evolutio nary distant species, with >10 bird species having a histidine at this position. In summary, while the clinical significance of the p.Glu2588His variant is unc ertain, the conservation data suggest that it is more likely to be benign.

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