ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe)

dbSNP: rs1665475399
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243377 SCV001416531 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 2466 of the USH2A protein (p.Ser2466Phe). This variant is not present in population databases (gnomAD no frequency). 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: 968277). 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 with a negative predictive value of 95%. 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 RCV002564062 SCV003603516 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.7397C>T (p.S2466F) alteration is located in exon 39 (coding exon 38) of the USH2A gene. This alteration results from a C to T substitution at nucleotide position 7397, causing the serine (S) at amino acid position 2466 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003449762 SCV004183261 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001829023 SCV004183262 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829023 SCV002090858 uncertain significance Usher syndrome type 2A 2021-09-06 no assertion criteria provided clinical testing

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