ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8188C>T (p.Pro2730Ser)

dbSNP: rs768532694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669538 SCV000794299 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558501 SCV004292393 uncertain significance not provided 2023-09-12 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2730 of the USH2A protein (p.Pro2730Ser). 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. 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 expected to disrupt USH2A protein function. ClinVar contains an entry for this variant (Variation ID: 553991). This missense change has been observed in individual(s) with retinitis pigmentosa and/or Usher syndrome (PMID: 25412400, 28512305). This variant is present in population databases (rs768532694, gnomAD 0.003%).

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