ClinVar Miner

Submissions for variant NM_173477.5(USH1G):c.46C>G (p.Leu16Val)

gnomAD frequency: 0.00002  dbSNP: rs876657419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002515610 SCV003443310 uncertain significance not provided 2022-03-23 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 16 of the USH1G protein (p.Leu16Val). 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. 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 226440). This missense change has been observed in individual(s) with clinical features of Usher syndrome (PMID: 21569298). This variant is present in population databases (no rsID available, gnomAD 0.007%).
GeneReviews RCV000220910 SCV000268764 likely pathogenic Usher syndrome type 1 2016-05-19 no assertion criteria provided literature only

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