ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) (rs397517334)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039198 SCV000062882 likely benign not specified 2012-09-22 criteria provided, single submitter clinical testing Met1689Thr in exon 39 of CDH23: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of note, more than 20 different mammals have a threonine (Thr) at this position des pite high nearby amino acid conservation. In addition, computational analyses ( biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Met1689Thr variant may not impact the protein.
Illumina Clinical Services Laboratory,Illumina RCV000281904 SCV000363775 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318225 SCV000363776 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000912043 SCV001057128 likely benign not provided 2019-02-02 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000844910 SCV000986717 not provided Deafness, autosomal recessive 12; Usher syndrome, type 1D no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 01/15/2018 by GTR ID Blueprint Genetics. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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