ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4870G>T (p.Asp1624Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1418438946
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367610 SCV001563965 uncertain significance not provided 2023-07-03 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1058465). This missense change has been observed in individual(s) with retinitis pigmentosa (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 1624 of the USH2A protein (p.Asp1624Tyr).
Natera, Inc. RCV001826061 SCV002091582 uncertain significance Usher syndrome type 2A 2021-08-16 no assertion criteria provided clinical testing

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