ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)

dbSNP: rs111033439
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041674 SCV000065370 uncertain significance not specified 2009-08-03 criteria provided, single submitter clinical testing
Counsyl RCV000667791 SCV000792295 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852852 SCV002220064 pathogenic not provided 2023-08-30 criteria provided, single submitter clinical testing Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 48353). This variant has been observed in individuals with USH2A-related conditions (PMID: 20507924, 22135276, 25425308; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 3529 of the USH2A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the USH2A protein. This variant also falls at the last nucleotide of exon 53, which is part of the consensus splice site for this exon. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003466892 SCV004208392 likely pathogenic Retinitis pigmentosa 39 2024-03-12 criteria provided, single submitter clinical testing

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