ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5842C>T (p.Arg1948Cys)

gnomAD frequency: 0.00003  dbSNP: rs145647517
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234978 SCV001407641 uncertain significance not provided 2022-02-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1948 of the USH2A protein (p.Arg1948Cys). This variant is present in population databases (rs145647517, 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: 961305). 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.
GeneDx RCV001234978 SCV003852914 uncertain significance not provided 2022-09-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003353239 SCV004065481 uncertain significance Inborn genetic diseases 2023-08-15 criteria provided, single submitter clinical testing The c.5842C>T (p.R1948C) alteration is located in exon 29 (coding exon 28) of the USH2A gene. This alteration results from a C to T substitution at nucleotide position 5842, causing the arginine (R) at amino acid position 1948 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003449730 SCV004181755 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001834038 SCV004181756 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834038 SCV002091559 uncertain significance Usher syndrome type 2A 2020-09-23 no assertion criteria provided clinical testing

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