ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.926C>T (p.Pro309Leu)

dbSNP: rs1359713084
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300494 SCV001489637 uncertain significance not provided 2022-08-23 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 309 of the USH2A protein (p.Pro309Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individuals with clinical features of Usher syndrome (PMID: 27460420, 28041643). ClinVar contains an entry for this variant (Variation ID: 438032). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Baylor Genetics RCV003464081 SCV004208150 likely pathogenic Retinitis pigmentosa 39 2023-10-19 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504774 SCV000598841 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Natera, Inc. RCV001834624 SCV002094006 uncertain significance Usher syndrome type 2A 2020-04-10 no assertion criteria provided clinical testing

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