ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.538T>C (p.Ser180Pro) (rs1171672823)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669584 SCV000794351 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-08 criteria provided, single submitter clinical testing
Invitae RCV001058017 SCV001222552 pathogenic not provided 2019-04-18 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 180 of the USH2A protein (p.Ser180Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with USH2A-related conditions in a family and has also been observed in several individuals affected with USH2A-related conditions (PMID: 19737284, 30029497, 23737954). ClinVar contains an entry for this variant (Variation ID: 554033). 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). For these reasons, this variant has been classified as Pathogenic.

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