Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000656495 | SCV000678241 | uncertain significance | Autosomal recessive osteopetrosis 4 | 2017-12-19 | no assertion criteria provided | clinical testing | The observed variant c.641A>G (p.A214S) 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. Another variant c.1165G>A (p.G389A) in exon 14 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 and ExAC databases. The in silico prediction of the variant is probably damaging by Polyphen-2 and damaging by SIFT, LRT and MutationTaster2. |