ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2726C>A (p.Pro909His)

gnomAD frequency: 0.00004  dbSNP: rs752748453
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002541716 SCV003457343 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 909 of the USH2A protein (p.Pro909His). This variant is present in population databases (rs752748453, gnomAD 0.008%). 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: 991453). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002537859 SCV003657801 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.2726C>A (p.P909H) alteration is located in exon 13 (coding exon 12) of the USH2A gene. This alteration results from a C to A substitution at nucleotide position 2726, causing the proline (P) at amino acid position 909 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003449830 SCV004182411 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001279669 SCV004182412 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279669 SCV001466783 uncertain significance Usher syndrome type 2A 2020-08-13 no assertion criteria provided clinical testing

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