ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10657G>A (p.Asp3553Asn) (rs910086490)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674831 SCV000800232 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-05-29 criteria provided, single submitter clinical testing
Invitae RCV001230929 SCV001403429 likely pathogenic not provided 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 3553 of the USH2A protein (p.Asp3553Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Usher syndrome or retinitis pigmentosa (PMID: 24944099, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 558542). 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 C15"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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