ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3226C>T (p.Pro1076Ser)

gnomAD frequency: 0.00009  dbSNP: rs139089840
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052474 SCV001216686 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1076 of the USH2A protein (p.Pro1076Ser). This variant is present in population databases (rs139089840, gnomAD 0.02%). 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: 848666). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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 RCV001052474 SCV001796563 uncertain significance not provided 2022-08-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003455230 SCV004182361 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271232 SCV004182363 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678917 SCV005181341 uncertain significance Inborn genetic diseases 2024-04-19 criteria provided, single submitter clinical testing The c.3226C>T (p.P1076S) alteration is located in exon 16 (coding exon 15) of the USH2A gene. This alteration results from a C to T substitution at nucleotide position 3226, causing the proline (P) at amino acid position 1076 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001271232 SCV001452241 uncertain significance Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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