ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1547G>T (p.Gly516Val)

gnomAD frequency: 0.00001  dbSNP: rs1415484067
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986548 SCV001135567 likely pathogenic Usher syndrome type 2A 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869337 SCV002232785 pathogenic not provided 2022-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly516 amino acid residue in USH2A. Other variant(s) that disrupt this residue have been observed in individuals with USH2A-related conditions (PMID: 27460420), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 801619). This missense change has been observed in individuals with Usher syndrome (PMID: 15325563, 21738395, 27460420, 33576794). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 516 of the USH2A protein (p.Gly516Val).
Genome-Nilou Lab RCV000986548 SCV004182860 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467540 SCV004208269 likely pathogenic Retinitis pigmentosa 39 2023-11-28 criteria provided, single submitter clinical testing

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