ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys)

dbSNP: rs767209934
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994252 SCV001147679 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
Invitae RCV000994252 SCV001388668 pathogenic not provided 2023-07-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on USH2A protein function. ClinVar contains an entry for this variant (Variation ID: 806356). This missense change has been observed in individual(s) with Usher syndrome and inherited retinal dystrophy (PMID: 24944099, 27460420, 30459346, 33576794; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 511 of the USH2A protein (p.Glu511Lys).
Baylor Genetics RCV003467553 SCV004208191 pathogenic Retinitis pigmentosa 39 2023-10-11 criteria provided, single submitter clinical testing

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