ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4436A>T (p.Asn1479Ile)

gnomAD frequency: 0.00001  dbSNP: rs961580455
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825491 SCV000966794 uncertain significance not specified 2018-07-17 criteria provided, single submitter clinical testing The p.Asn1479Ile variant in USH2A has not been previously reported in individual s with hearing loss and Usher syndrome but has been identified in 4/111168 Europ ean chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadi nstitute.org). Although this variant has been seen in the general population, it s frequency is not high enough to rule out a pathogenic role. Computational pred iction tools and conservation analysis suggest that the p.Asn1479Ile variant may impact the protein, though this information is not predictive enough to determi ne pathogenicity. In summary, the clinical significance of the p.Asn1479Ile vari ant is uncertain. ACMG/AMP Criteria applied: PP3, PM2_Supporting.
Baylor Genetics RCV001330639 SCV001522382 uncertain significance Usher syndrome type 2A 2020-07-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV003453744 SCV004182238 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001330639 SCV004182239 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678850 SCV005181340 uncertain significance Inborn genetic diseases 2024-04-06 criteria provided, single submitter clinical testing The c.4436A>T (p.N1479I) alteration is located in exon 21 (coding exon 20) of the USH2A gene. This alteration results from a A to T substitution at nucleotide position 4436, causing the asparagine (N) at amino acid position 1479 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001330639 SCV002093901 uncertain significance Usher syndrome type 2A 2020-07-22 no assertion criteria provided clinical testing

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