ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)

dbSNP: rs746442849
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073309 SCV001238847 uncertain significance Retinal dystrophy 2018-11-09 criteria provided, single submitter clinical testing
Invitae RCV001862801 SCV002192960 likely pathogenic not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 4523 of the USH2A protein (p.Val4523Phe). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individuals with retinitis pigmentosa (PMID: 35836572; Invitae). ClinVar contains an entry for this variant (Variation ID: 865805). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt USH2A protein function with a negative predictive value of 95%. 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.
Genome-Nilou Lab RCV003455312 SCV004183154 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455311 SCV004183155 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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