ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2761C>A (p.Leu921Met)

gnomAD frequency: 0.00001  dbSNP: rs772211390
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000993541 SCV001146609 uncertain significance not provided 2019-07-17 criteria provided, single submitter clinical testing
Invitae RCV000993541 SCV003003716 uncertain significance not provided 2022-06-10 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 921 of the USH2A protein (p.Leu921Met). This variant is present in population databases (rs772211390, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 805744). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Genome-Nilou Lab RCV003455014 SCV004182407 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455013 SCV004182408 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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