ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp) (rs1057519382)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV001004786 SCV001164271 uncertain significance Usher syndrome 2019-10-23 reviewed by expert panel curation The c.9921T>G (p.Cys3307Trp) variant in USH2A is absent from gnomAD (PM2). This variant was observed in 1 patient with Usher Syndrome, without a second variant in USH2A (PMID: 21569298). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PM2.
Counsyl RCV000675100 SCV000800635 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-12-12 criteria provided, single submitter clinical testing
Invitae RCV001056911 SCV001221376 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tryptophan at codon 3307 of the USH2A protein (p.Cys3307Trp). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 26667666). ClinVar contains an entry for this variant (Variation ID: 226441). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001056911 SCV001246989 pathogenic not provided 2018-04-01 criteria provided, single submitter clinical testing
GeneReviews RCV000216234 SCV000268766 likely pathogenic Usher syndrome type 1 2016-05-19 no assertion criteria provided literature only

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