ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7025C>T (p.Ser2342Phe)

dbSNP: rs1187620613
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044869 SCV001208690 uncertain significance not provided 2022-07-19 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 2342 of the USH2A protein (p.Ser2342Phe). This variant is not present in population databases (gnomAD no frequency). 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: 842443). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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.

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