ClinVar Miner

Submissions for variant NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg) (rs1555465003)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000656725 SCV000777906 uncertain significance Autosomal recessive osteopetrosis 4 2017-12-19 no assertion criteria provided clinical testing The observed variant c.1165G>A (p.G389A) in exon 14 of CLCN7 gene, has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant is probably damaging by Polyphen-2 and damaging by SIFT, LRT and MutationTaster2. Another variant c.641A>G (p.A214S) in exon 7 of CLCN7 gene, along with above variant, was observed as a compound heterozygous variation in the given patient. It has not been reported in the 1000 genomes database and has a minor allele frequency of 0.0008% in the ExAC database. The in silico prediction of the variant is probably damaging by Polyphen-2 and damaging by SIFT, LRT and MutationTaster2.

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