ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5506C>A (p.Pro1836Thr)

dbSNP: rs755032078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074741 SCV001240336 pathogenic Retinal dystrophy 2019-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001204740 SCV001375960 pathogenic not provided 2023-07-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on USH2A protein function. ClinVar contains an entry for this variant (Variation ID: 866608). This missense change has been observed in individual(s) with retinal degeneration and/or Usher syndrome (PMID: 28559085, 32037395). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1836 of the USH2A protein (p.Pro1836Thr).
Genome-Nilou Lab RCV003455374 SCV004181797 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing

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