ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) (rs34489989)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000509503 SCV000227718 uncertain significance not provided 2016-11-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398651 SCV000417621 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304805 SCV000417622 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000634201 SCV000755504 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2018-10-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 863 of the TTC21B protein (p.Arg863Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs34489989, ExAC 0.1%). This variant has been reported in an individual affected with Bardet-Biedl syndrome (PMID: 22773737). ClinVar contains an entry for this variant (Variation ID: 195531). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GenomeConnect, ClinGen RCV000509503 SCV000607229 not provided not provided no assertion provided phenotyping only 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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