Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596610 | SCV000704371 | uncertain significance | not provided | 2016-12-05 | criteria provided, single submitter | clinical testing | |
Centre for Genomic Medicine, |
RCV001002694 | SCV001156395 | pathogenic | Senior-Loken syndrome 4 | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001416064 | SCV001618234 | likely benign | Nephronophthisis | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Foundation for Research in Genetics and Endocrinology, |
RCV002286526 | SCV002574910 | uncertain significance | Nephronophthisis 4 | 2022-08-08 | criteria provided, single submitter | clinical testing | A heterozygous missense variation in exon 16 of the NPHP4 gene (chr1:g.5904731G>A; Depth: 156x) that results in the amino acid substitution of Serine for Proline at codon 677 (p.Pro677Ser; ENST00000378156.9) was detected (Table). This variant has a minor allele frequency of 0.1%, 0.006% in the 1000 genomes, gnomAD . The in silico predictions# of the variant are probably damaging by PolyPhen-2 (HumDiv), damaging by SIFT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to classified as variant of uncertain significance. |