Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000809095 | SCV000949235 | likely benign | Landau-Kleffner syndrome | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV000809095 | SCV002820114 | uncertain significance | Landau-Kleffner syndrome | criteria provided, single submitter | clinical testing | The missense variant p.H358Q in GRIN2A (NM_000833.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The missense variant c.1074C>G (p.H358Q) in ? (NM_000833.5) is observed in 10/30616 (0.0327%) alleles from individuals of South Asian background in the gnomAD dataset (Exome Aggregation Consortium et al., 2016), but was not seen in the homozygous state. the variant is damaging by predictions and the resiude is weakly conserved across species. For these reasons, this variant has been classified as Uncertain Significance. |