ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4587A>C (p.Lys1529Asn)

gnomAD frequency: 0.00013  dbSNP: rs756423843
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048855 SCV001212880 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1529 of the USH2A protein (p.Lys1529Asn). This variant is present in population databases (rs756423843, gnomAD 0.03%). 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: 845734). 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.
GeneDx RCV001048855 SCV001750732 likely benign not provided 2021-06-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003363075 SCV004083343 uncertain significance Inborn genetic diseases 2023-08-08 criteria provided, single submitter clinical testing The c.4587A>C (p.K1529N) alteration is located in exon 21 (coding exon 20) of the USH2A gene. This alteration results from a A to C substitution at nucleotide position 4587, causing the lysine (K) at amino acid position 1529 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001273054 SCV001455641 uncertain significance Usher syndrome type 2A 2020-01-24 no assertion criteria provided clinical testing

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