Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002496408 | SCV002813301 | pathogenic | Autosomal recessive Alport syndrome; Benign familial hematuria | 2022-03-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002513114 | SCV003524928 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 17405). This variant is also known as a "substitution of A for C" that "replaces a serine codon with a stop codon". This premature translational stop signal has been observed in individual(s) with Alport syndrome (PMID: 7987396). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1238*) in the COL4A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A4 are known to be pathogenic (PMID: 21196518, 24854265, 25307543). |
OMIM | RCV000018948 | SCV000039235 | pathogenic | Autosomal recessive Alport syndrome | 1997-01-01 | no assertion criteria provided | literature only |