ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14926G>A (p.Gly4976Ser)

gnomAD frequency: 0.00008  dbSNP: rs200761611
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001235584 SCV001408275 uncertain significance not provided 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 4976 of the USH2A protein (p.Gly4976Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs200761611, ExAC 0.03%). This missense change has been observed in individual(s) with retinitis pigmentosa (Invitae). 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: "Deleterious"; 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.
Baylor Genetics RCV003469432 SCV004208232 likely pathogenic Retinitis pigmentosa 39 2024-03-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828874 SCV002088206 uncertain significance Usher syndrome type 2A 2021-05-12 no assertion criteria provided clinical testing

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