ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.232T>G (p.Phe78Val)

gnomAD frequency: 0.00001  dbSNP: rs775094277
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674232 SCV000799534 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2018-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001300495 SCV001489638 likely pathogenic not provided 2024-01-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 78 of the USH2A protein (p.Phe78Val). This variant is present in population databases (rs775094277, gnomAD 0.002%). This missense change has been observed in individuals with clinical features of Usher syndrome (PMID: 27460420, 33576794; Invitae). ClinVar contains an entry for this variant (Variation ID: 558020). 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%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV000674232 SCV002781147 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2021-07-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459644 SCV004208400 likely pathogenic Retinitis pigmentosa 39 2024-03-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830462 SCV002094034 uncertain significance Usher syndrome type 2A 2020-01-16 no assertion criteria provided clinical testing

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