ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1327A>C (p.Asn443His)

gnomAD frequency: 0.00001  dbSNP: rs775075026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002537860 SCV003518370 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 443 of the USH2A protein (p.Asn443His). This variant is present in population databases (rs775075026, gnomAD 0.002%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Natera, Inc. RCV001279671 SCV001466785 uncertain significance Usher syndrome type 2A 2020-08-16 no assertion criteria provided clinical testing

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