ClinVar Miner

Submissions for variant NM_001287.6(CLCN7):c.2274C>G (p.Phe758Leu)

dbSNP: rs760740877
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Lab, Department of Haematology, Christian Medical College RCV002247767 SCV002516037 pathogenic Autosomal dominant osteopetrosis 2 2022-05-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003093970 SCV003233486 uncertain significance not provided 2022-08-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1684675). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This missense change has been observed in individual(s) with osteopetrosis (PMID: 19953639). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 758 of the CLCN7 protein (p.Phe758Leu).

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