ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val)

gnomAD frequency: 0.00004  dbSNP: rs753175395
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001316668 SCV001507299 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 5115 of the USH2A protein (p.Ile5115Val). This variant is present in population databases (rs753175395, gnomAD 0.008%). This missense change has been observed in individual(s) with clinical features of USH2A-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1017509). 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) performed at Invitae indicates that this missense variant is not expected to disrupt 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.
Ambry Genetics RCV002543701 SCV003717462 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.15343A>G (p.I5115V) alteration is located in exon 71 (coding exon 70) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 15343, causing the isoleucine (I) at amino acid position 5115 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001316668 SCV004014180 uncertain significance not provided 2023-09-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003449905 SCV004183225 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449904 SCV004183236 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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