ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.490G>T (p.Val164Phe)

dbSNP: rs527236123
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075672 SCV001241300 likely pathogenic Retinal dystrophy 2019-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001227152 SCV001399494 likely pathogenic not provided 2023-01-10 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 143182). This missense change has been observed in individuals with USH2A-related conditions (PMID: 25324289, 29785639; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 164 of the USH2A protein (p.Val164Phe).
Genome-Nilou Lab RCV003453101 SCV004182975 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV001075672 SCV004708085 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Baylor Genetics RCV003453101 SCV005055728 pathogenic Retinitis pigmentosa 39 2024-02-06 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132713 SCV000172666 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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