ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.4618G>A (p.Asp1540Asn) (rs752238803)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666277 SCV000790540 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-03-28 criteria provided, single submitter clinical testing
Invitae RCV001040695 SCV001204284 uncertain significance not provided 2019-11-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1540 of the USH2A protein (p.Asp1540Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs752238803, ExAC 0.002%). This variant has been observed in several individuals affected with retinitis pigmentosa. However, in those individuals, the variant was likely on the same chromosome as another pathogenic variant (PMID: 25472526, 28041643). ClinVar contains an entry for this variant (Variation ID: 438022). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Blueprint Genetics RCV001073900 SCV001239465 uncertain significance Retinal dystrophy 2018-05-28 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504729 SCV000598812 uncertain significance Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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