ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14011G>A (p.Glu4671Lys)

gnomAD frequency: 0.00002  dbSNP: rs769560933
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001918828 SCV002186506 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 4671 of the USH2A protein (p.Glu4671Lys). This variant is present in population databases (rs769560933, gnomAD 0.05%). This missense change has been observed in individual(s) with USH2A-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1411437). 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 not expected to disrupt USH2A protein function. 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.
Dept Of Ophthalmology, Nagoya University RCV003888906 SCV004707223 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Ambry Genetics RCV004681315 SCV005181333 uncertain significance Inborn genetic diseases 2024-03-18 criteria provided, single submitter clinical testing The c.14011G>A (p.E4671K) alteration is located in exon 64 (coding exon 63) of the USH2A gene. This alteration results from a G to A substitution at nucleotide position 14011, causing the glutamic acid (E) at amino acid position 4671 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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