ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser)

gnomAD frequency: 0.00001  dbSNP: rs768579751
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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 RCV001348717 SCV001543027 uncertain significance not provided 2025-01-13 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 3032 of the USH2A protein (p.Asn3032Ser). This variant is present in population databases (rs768579751, gnomAD 0.002%). 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: 1044471). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt USH2A protein function with a negative predictive value of 95%. 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 RCV002547487 SCV003665515 uncertain significance Inborn genetic diseases 2022-11-17 criteria provided, single submitter clinical testing The c.9095A>G (p.N3032S) alteration is located in exon 46 (coding exon 45) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 9095, causing the asparagine (N) at amino acid position 3032 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003449978 SCV004182739 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001831144 SCV004182740 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831144 SCV002088417 uncertain significance Usher syndrome type 2A 2019-11-06 no assertion criteria provided clinical testing

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