ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) (rs753330544)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666708 SCV000791051 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-04-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724329 SCV000231908 pathogenic not provided 2014-11-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000666708 SCV000893283 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-10-31 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000179630 SCV000804734 likely pathogenic Usher syndrome, type 2A 2016-09-01 no assertion criteria provided clinical testing
Invitae RCV000724329 SCV000935692 likely pathogenic not provided 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 4439 of the USH2A protein (p.Thr4439Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another USH2A variant in individuals affected with Usher syndrome (PMID: 25521520, 28041643, 22135276, 27460420, 26416264, 27957503, 24944099). ClinVar contains an entry for this variant (Variation ID: 198344). 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504835 SCV000598784 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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