ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)

dbSNP: rs201513512
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986514 SCV001135529 uncertain significance Usher syndrome type 2A 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001041834 SCV001205479 likely pathogenic not provided 2024-01-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 5127 of the USH2A protein (p.Pro5127Leu). This variant is present in population databases (rs201513512, gnomAD 0.003%). This missense change has been observed in individuals with clinical features of retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 801608). 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. 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.
Blueprint Genetics RCV001074615 SCV001240206 uncertain significance Retinal dystrophy 2019-01-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV001328877 SCV001520109 uncertain significance Retinitis pigmentosa 39 2019-04-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV001041834 SCV001746893 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000986514 SCV002088187 uncertain significance Usher syndrome type 2A 2020-08-04 no assertion criteria provided clinical testing

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