Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
New York Genome Center | RCV002275635 | SCV002564293 | uncertain significance | Coffin-Siris syndrome 12 | 2022-02-15 | criteria provided, single submitter | clinical testing | The de novo c.2370C>G variant in BICRA has not previously been reported in the literature or public variant repositories(ClinVar and LOVD), and is absent from population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8), suggesting it is not a common benign variant in the populations represented in those databases. The c.2370C>G variant is located in exon 8 of this 15-exon gene, and predicted to replace a weakly conserved histidine amino acid with glutamine at position 790 (p.(His790Gln)) in a non-specific region of the encoded protein. In silico predictions are not in favor of a damaging effect for p.(His790Gln) [(CADD v1.6 = 13.54, REVEL = 0.014]. Based on available evidence this de novo c.2370C>G p.(His790Gln) variant identified in BICRA is classified as a Variant of Uncertain Significance. |