ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5041A>G (p.Asn1681Asp)

gnomAD frequency: 0.00001  dbSNP: rs746010533
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001325326 SCV001516316 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1681 of the USH2A protein (p.Asn1681Asp). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1025059). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV003375224 SCV004071854 uncertain significance Inborn genetic diseases 2023-06-16 criteria provided, single submitter clinical testing The c.5041A>G (p.N1681D) alteration is located in exon 25 (coding exon 24) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 5041, causing the asparagine (N) at amino acid position 1681 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003449935 SCV004181856 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001830371 SCV004181857 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830371 SCV002091580 uncertain significance Usher syndrome type 2A 2020-09-11 no assertion criteria provided clinical testing

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