ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003091569 SCV003476845 uncertain significance not provided 2022-06-08 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 5160 of the USH2A protein (p.Asn5160Ser). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Ambry Genetics RCV003274223 SCV003973900 uncertain significance Inborn genetic diseases 2023-04-18 criteria provided, single submitter clinical testing The c.15479A>G (p.N5160S) alteration is located in exon 71 (coding exon 70) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 15479, causing the asparagine (N) at amino acid position 5160 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455707 SCV004182675 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455706 SCV004182686 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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