ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1397G>T (p.Gly466Val)

gnomAD frequency: 0.00001  dbSNP: rs1553250627
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670287 SCV000795121 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001300493 SCV001489636 pathogenic not provided 2023-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 466 of the USH2A protein (p.Gly466Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 24938718, 31960602; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 554616). 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. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003459614 SCV004206325 pathogenic Retinitis pigmentosa 39 2023-02-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829863 SCV002093987 uncertain significance Usher syndrome type 2A 2020-07-27 no assertion criteria provided clinical testing

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