Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522945 | SCV000620755 | uncertain significance | not provided | 2017-09-08 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the KCNJ10 gene. The D351N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D351N variant is observed in 14/16344 (0.01%) alleles from individuals of South Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D351N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Fulgent Genetics, |
RCV000764988 | SCV000896167 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome; EAST syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001489554 | SCV001694096 | likely benign | EAST syndrome | 2021-10-15 | criteria provided, single submitter | clinical testing | |
Centre de Biologie Pathologie Génétique, |
RCV001252024 | SCV001427771 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |