ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)

dbSNP: rs756163056
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074254 SCV001239827 uncertain significance Retinal dystrophy 2019-04-30 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375065 SCV001571834 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PP3_Supporting
Invitae RCV002554707 SCV003460716 uncertain significance not provided 2022-10-30 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 3138 of the USH2A protein (p.Gly3138Ala). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 28559085). ClinVar contains an entry for this variant (Variation ID: 866347). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt USH2A protein function. 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 RCV003455350 SCV004182696 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455349 SCV004182698 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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