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 RCV000993541 SCV001146609 uncertain significance not provided 2024-07-30 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Polyphen and MutationTaster predict this amino acid change may be benign.
Labcorp Genetics (formerly Invitae), Labcorp 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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