ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro)

gnomAD frequency: 0.00003  dbSNP: rs201332729
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052445 SCV001216655 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 529 of the USH2A protein (p.Thr529Pro). This variant is present in population databases (rs201332729, gnomAD 0.007%). 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: 848645). 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: "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.
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375136 SCV001572097 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PP3_Supporting
GeneDx RCV001052445 SCV001788953 uncertain significance not provided 2022-01-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
DBGen Ocular Genomics RCV001593221 SCV001816012 uncertain significance Retinitis pigmentosa 39 2021-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001593221 SCV004182521 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001277084 SCV004182522 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277084 SCV001463881 uncertain significance Usher syndrome type 2A 2020-01-17 no assertion criteria provided clinical testing

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